[X] Close
You are about to erase all the values you have customized, search history, page format, etc.
Click here to RESET all values       Click here to GO BACK without resetting any value
Items 1 to 100 of about 283
1. Ge Y, LaFiura KM, Dombkowski AA, Chen Q, Payton SG, Buck SA, Salagrama S, Diakiw AE, Matherly LH, Taub JW: The role of the proto-oncogene ETS2 in acute megakaryocytic leukemia biology and therapy. Leukemia; 2008 Mar;22(3):521-9
The Lens. Cited by Patents in .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The role of the proto-oncogene ETS2 in acute megakaryocytic leukemia biology and therapy.
  • Acute myeloid leukemia (AML) in Down syndrome (DS) children has several unique features including a predominance of the acute megakaryocytic leukemia (AMkL) phenotype, higher event-free survivals compared to non-DS children using cytosine arabinoside (ara-C)/anthracycline-based protocols and a uniform presence of somatic mutations in the X-linked transcription factor gene, GATA1.
  • Several chromosome 21-localized transcription factor oncogenes including ETS2 may contribute to the unique features of DS AMkL.
  • In a doxycycline-inducible erythroleukemia cell line, K562pTet-on/ETS2, induction of ETS2 resulted in an erythroid to megakaryocytic phenotypic switch independent of GATA1 levels.
  • Microarray analysis of doxycycline-induced and doxycycline-uninduced cells revealed an upregulation by ETS2 of cytokines (for example, interleukin 1 and CSF2) and transcription factors (for example, TAL1), which are key regulators of megakaryocytic differentiation.
  • These results suggest that ETS2 expression is linked to the biology of AMkL in both DS and non-DS children, and that ETS2 acts by regulating expression of hematopoietic lineage and transcription factor genes involved in erythropoiesis and megakaryopoiesis, and in chemotherapy sensitivities.

  • COS Scholar Universe. author profiles.
  • Hazardous Substances Data Bank. CYTARABINE .
  • Hazardous Substances Data Bank. DAUNORUBICIN .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Oncogene. 1998 Dec 3;17(22):2883-8 [9879994.001]
  • [Cites] Bioinformatics. 2006 May 1;22(9):1111-21 [16522673.001]
  • [Cites] Leukemia. 2000 May;14(5):786-91 [10803507.001]
  • [Cites] Leukemia. 2000 May;14(5):943-4 [10803530.001]
  • [Cites] J Biol Chem. 2001 Mar 23;276(12):8713-9 [11106643.001]
  • [Cites] J Pediatr Hematol Oncol. 2001 Mar-Apr;23(3):175-8 [11305722.001]
  • [Cites] Blood. 2002 Jan 1;99(1):245-51 [11756178.001]
  • [Cites] Nat Genet. 2002 Sep;32(1):148-52 [12172547.001]
  • [Cites] J Immunol. 2002 Nov 1;169(9):4873-81 [12391198.001]
  • [Cites] Nature. 2003 Jan 30;421(6922):547-51 [12540851.001]
  • [Cites] Cancer Invest. 2003;21(1):105-36 [12643014.001]
  • [Cites] Lancet. 2003 May 10;361(9369):1617-20 [12747884.001]
  • [Cites] Blood. 2003 Jun 1;101(11):4298-300 [12560215.001]
  • [Cites] Blood. 2003 Jun 1;101(11):4333-41 [12576332.001]
  • [Cites] Blood. 2003 Jun 1;101(11):4301-4 [12586620.001]
  • [Cites] Blood. 2003 Aug 1;102(3):981-6 [12649131.001]
  • [Cites] J Clin Oncol. 2003 Sep 15;21(18):3415-22 [12885836.001]
  • [Cites] Blood. 2003 Oct 15;102(8):2960-8 [12816863.001]
  • [Cites] Exp Hematol. 2004 Jan;32(1):11-24 [14725896.001]
  • [Cites] Proc Natl Acad Sci U S A. 2004 Mar 16;101(11):3915-20 [15007164.001]
  • [Cites] Blood. 2004 Apr 1;103(7):2480-9 [14656875.001]
  • [Cites] Oncogene. 2004 May 24;23(24):4255-62 [15156181.001]
  • [Cites] J Biol Response Mod. 1986 Jun;5(3):250-62 [2425057.001]
  • [Cites] Proc Natl Acad Sci U S A. 1989 Aug;86(15):5958-62 [2527368.001]
  • [Cites] Proc Natl Acad Sci U S A. 1989 Oct;86(20):7833-7 [2813360.001]
  • [Cites] Genes Dev. 1990 Mar;4(3):401-9 [2186967.001]
  • [Cites] Blood. 1991 Apr 15;77(8):1627-52 [1826616.001]
  • [Cites] Br J Haematol. 1991 Aug;78(4):480-7 [1911339.001]
  • [Cites] Blood. 1992 Nov 1;80(9):2210-4 [1384797.001]
  • [Cites] Mol Cell Biol. 1993 Jan;13(1):668-76 [8417360.001]
  • [Cites] Leuk Res. 1994 Mar;18(3):163-71 [8139285.001]
  • [Cites] Nature. 1995 May 25;375(6529):318-22 [7753195.001]
  • [Cites] Cell. 1995 Jun 2;81(5):695-704 [7774011.001]
  • [Cites] Science. 1995 Jun 23;268(5218):1766-9 [7792603.001]
  • [Cites] Cell. 1996 Jan 26;84(2):321-30 [8565077.001]
  • [Cites] N Engl J Med. 1996 May 30;334(22):1428-34 [8618581.001]
  • [Cites] Blood. 1996 Oct 15;88(8):3248-9 [8874232.001]
  • [Cites] Mol Cell Biol. 1996 Dec;16(12):6851-8 [8943340.001]
  • [Cites] Prostate. 1997 Feb 15;30(3):145-53 [9122038.001]
  • [Cites] Blood. 1997 Aug 1;90(3):1291-9 [9242564.001]
  • [Cites] Blood. 1998 Jan 15;91(2):608-15 [9427716.001]
  • [Cites] Cancer Res. 1998 Feb 1;58(3):562-9 [9458106.001]
  • [Cites] Nat Genet. 1999 Oct;23(2):166-75 [10508512.001]
  • [Cites] J Natl Cancer Inst. 2005 Feb 2;97(3):226-31 [15687366.001]
  • [Cites] Br J Haematol. 2005 Mar;128(6):797-804 [15755283.001]
  • [Cites] Leukemia. 2005 Aug;19(8):1355-60 [15920490.001]
  • [Cites] Cancer Res. 2005 Sep 1;65(17):7596-602 [16140924.001]
  • [Cites] Blood. 2006 Feb 15;107(4):1570-81 [16249385.001]
  • [Cites] Proc Natl Acad Sci U S A. 2006 Feb 28;103(9):3339-44 [16492768.001]
  • [Cites] Blood. 1999 Aug 15;94(4):1393-400 [10438727.001]
  • (PMID = 18094719.001).
  • [ISSN] 1476-5551
  • [Journal-full-title] Leukemia
  • [ISO-abbreviation] Leukemia
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / R01 CA092308; United States / NCI NIH HHS / CA / R01 CA92308; United States / NIEHS NIH HHS / ES / P30 ES06639; United States / NIEHS NIH HHS / ES / P30 ES006639; United States / NCI NIH HHS / CA / T32 CA009531; United States / NCI NIH HHS / CA / R01 CA120772
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / ETS2 protein, human; 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human; 0 / Neoplasm Proteins; 0 / Proto-Oncogene Protein c-ets-2; 04079A1RDZ / Cytarabine; ZS7284E0ZP / Daunorubicin
  • [Other-IDs] NLM/ NIHMS505525; NLM/ PMC3809919
  •  go-up   go-down


2. Edwards H, Xie C, LaFiura KM, Dombkowski AA, Buck SA, Boerner JL, Taub JW, Matherly LH, Ge Y: RUNX1 regulates phosphoinositide 3-kinase/AKT pathway: role in chemotherapy sensitivity in acute megakaryocytic leukemia. Blood; 2009 Sep 24;114(13):2744-52
NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] RUNX1 regulates phosphoinositide 3-kinase/AKT pathway: role in chemotherapy sensitivity in acute megakaryocytic leukemia.
  • Translocations or down-regulation of RUNX1 have been linked to favorable clinical outcomes in acute leukemias, suggesting that RUNX1 may also play critical roles in chemotherapy responses in acute leukemias; however, the molecular mechanisms remain unclear.
  • The median level of RUNX1b transcripts in Down syndrome (DS) children with acute megakaryocytic leukemia (AMkL) were 4.4-fold (P < .001) lower than that in non-DS AMkL cases.
  • Short hairpin RNA knockdown of RUNX1 in a non-DS AMkL cell line, Meg-01, resulted in significantly increased sensitivity to cytosine arabinoside, accompanied by significantly decreased expression of PIK3CD, which encodes the delta catalytic subunit of the survival kinase, phosphoinositide 3 (PI3)-kinase.
  • Further, a PI3-kinase inhibitor, LY294002, and cytosine arabinoside synergized in antileukemia effects on Meg-01 and primary pediatric AMkL cells.
  • Our results suggest that RUNX1 may play a critical role in chemotherapy response in AMkL by regulating the PI3-kinase/Akt pathway.
  • Thus, the treatment of AMkL may be improved by integrating PI3-kinase or Akt inhibitors into the chemotherapy of this disease.

  • COS Scholar Universe. author profiles.
  • Hazardous Substances Data Bank. CYTARABINE .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Blood. 1999 Dec 1;94(11):3707-16 [10572083.001]
  • [Cites] Blood. 2004 Dec 1;104(12):3679-87 [15226186.001]
  • [Cites] Leukemia. 2000 May;14(5):786-91 [10803507.001]
  • [Cites] Leukemia. 2000 May;14(5):943-4 [10803530.001]
  • [Cites] Blood. 2000 Oct 1;96(7):2405-11 [11001891.001]
  • [Cites] Cancer Invest. 2000;18(8):768-80 [11107447.001]
  • [Cites] J Biol Chem. 2001 Mar 23;276(12):8713-9 [11106643.001]
  • [Cites] Blood. 2001 Jun 15;97(12):3727-32 [11389009.001]
  • [Cites] Blood. 2002 Jan 1;99(1):245-51 [11756178.001]
  • [Cites] Blood. 2002 Feb 15;99(4):1364-72 [11830488.001]
  • [Cites] Leukemia. 2002 Sep;16(9):1622-6 [12200673.001]
  • [Cites] JAMA. 2005 Jan 12;293(2):203-11 [15644547.001]
  • [Cites] J Natl Cancer Inst. 2005 Feb 2;97(3):226-31 [15687366.001]
  • [Cites] Blood. 2005 Aug 1;106(3):1063-6 [15840695.001]
  • [Cites] Leukemia. 2005 Aug;19(8):1495-6 [15920489.001]
  • [Cites] Leukemia. 2005 Aug;19(8):1355-60 [15920490.001]
  • [Cites] Blood. 2006 Feb 1;107(3):880-4 [16123215.001]
  • [Cites] Blood. 2006 Feb 15;107(4):1570-81 [16249385.001]
  • [Cites] Blood. 2006 Mar 1;107(5):1791-9 [16254134.001]
  • [Cites] Blood. 2006 Mar 1;107(5):1806-9 [16291592.001]
  • [Cites] Proc Natl Acad Sci U S A. 2006 Feb 28;103(9):3339-44 [16492768.001]
  • [Cites] Bioinformatics. 2006 May 1;22(9):1111-21 [16522673.001]
  • [Cites] Blood. 2006 May 1;107(9):3463-8 [16384925.001]
  • [Cites] Blood. 2006 Jun 1;107(11):4508-13 [16493009.001]
  • [Cites] Leukemia. 2006 Jun;20(6):911-28 [16642045.001]
  • [Cites] J Clin Oncol. 2006 Aug 20;24(24):3904-11 [16921041.001]
  • [Cites] Pharmacol Rev. 2006 Sep;58(3):621-81 [16968952.001]
  • [Cites] Cancer. 2007 Jan 1;109(1):157-63 [17133407.001]
  • [Cites] Oncologist. 2007 Mar;12(3):341-55 [17405900.001]
  • [Cites] Crit Rev Oncol Hematol. 2007 Sep;63(3):215-30 [17658267.001]
  • [Cites] Pediatr Blood Cancer. 2007 Dec;49(7 Suppl):1066-9 [17943965.001]
  • [Cites] Leukemia. 2008 Mar;22(3):521-9 [18094719.001]
  • [Cites] Lancet. 2008 Mar 22;371(9617):1030-43 [18358930.001]
  • [Cites] Oncogene. 2008 Aug 21;27(36):4933-42 [18469864.001]
  • [Cites] Blood. 2008 Nov 15;112(10):4220-6 [18755984.001]
  • [Cites] Blood. 2003 Feb 15;101(4):1551-7 [12393509.001]
  • [Cites] Am J Hematol. 2003 Jun;73(2):71-80 [12749007.001]
  • [Cites] J Clin Oncol. 2003 Sep 15;21(18):3415-22 [12885836.001]
  • [Cites] Leukemia. 2003 Nov;17(11):2249-50 [14523475.001]
  • [Cites] Oncogene. 2004 May 24;23(24):4255-62 [15156181.001]
  • [Cites] Blood. 1992 Nov 1;80(9):2210-4 [1384797.001]
  • [Cites] Leuk Res. 1994 Mar;18(3):163-71 [8139285.001]
  • [Cites] Science. 1995 Jun 23;268(5218):1766-9 [7792603.001]
  • [Cites] Cell. 1996 Jan 26;84(2):321-30 [8565077.001]
  • [Cites] Proc Natl Acad Sci U S A. 1996 Apr 16;93(8):3444-9 [8622955.001]
  • [Cites] N Engl J Med. 1996 May 30;334(22):1428-34 [8618581.001]
  • [Cites] Proc Natl Acad Sci U S A. 1996 Oct 29;93(22):12359-63 [8901586.001]
  • [Cites] Cell. 1996 Nov 15;87(4):697-708 [8929538.001]
  • [Cites] Proc Natl Acad Sci U S A. 1996 Nov 26;93(24):14059-64 [8943060.001]
  • [Cites] Blood. 1998 Jan 15;91(2):608-15 [9427716.001]
  • [Cites] Nat Genet. 1999 Oct;23(2):166-75 [10508512.001]
  • [Cites] Gene. 2000 Mar 21;245(2):223-35 [10717473.001]
  • (PMID = 19638627.001).
  • [ISSN] 1528-0020
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] ENG
  • [Grant] United States / NIEHS NIH HHS / ES / P30 ES006639; United States / NCI NIH HHS / CA / R01 CA120772; United States / NCI NIH HHS / CA / CA120772; United States / NIEHS NIH HHS / ES / P30 ES06639
  • [Publication-type] Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Core Binding Factor Alpha 2 Subunit; 0 / RNA, Small Interfering; 0 / RUNX1 protein, human; 04079A1RDZ / Cytarabine; EC 2.7.1.- / Phosphatidylinositol 3-Kinases; EC 2.7.1.137 / Class I Phosphatidylinositol 3-Kinases; EC 2.7.1.137 / PIK3CD protein, human; EC 2.7.11.1 / Oncogene Protein v-akt
  • [Other-IDs] NLM/ PMC2756129
  •  go-up   go-down


3. Oki Y, Kantarjian HM, Zhou X, Cortes J, Faderl S, Verstovsek S, O'Brien S, Koller C, Beran M, Bekele BN, Pierce S, Thomas D, Ravandi F, Wierda WG, Giles F, Ferrajoli A, Jabbour E, Keating MJ, Bueso-Ramos CE, Estey E, Garcia-Manero G: Adult acute megakaryocytic leukemia: an analysis of 37 patients treated at M.D. Anderson Cancer Center. Blood; 2006 Feb 1;107(3):880-4
COS Scholar Universe. author profiles.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Adult acute megakaryocytic leukemia: an analysis of 37 patients treated at M.D. Anderson Cancer Center.
  • To characterize acute megakaryocytic leukemia (FAB M7 AML), we identified 37 patients with M7 AML treated at M.D.
  • Anderson Cancer Center between 1987 and 2003 and compared them with 1800 patients with non-M7, non-M3 AML treated during the same period.
  • The median age of the M7 AML group was 56 years (range, 21-78 years); 22 patients (59%) had an antecedent hematologic disorder or myelodysplastic syndrome or both, and 7 patients (19%) had previously received chemotherapy for other malignancies.
  • Poor cytogenetic characteristics were observed in 49% of patients with M7 AML versus 33% of others (P < .001).
  • Complete remission rates were 43% with M7 AML and 57% with non-M7 AML (P = .089).
  • Median disease-free survivals were 23 versus 52 weeks, respectively (P < .001).
  • By multivariate analysis, M7 AML was an independent adverse prognostic factor for OS, independent of other factors including cytogenetic abnormalities (hazard ratio 1.51, P = .049).
  • These results confirm the poor prognosis of M7 AML and indicate that other biologic characteristics beyond cytogenetic abnormalities likely play a role in this disease.
  • [MeSH-major] Chromosome Aberrations. Chromosomes, Human. Leukemia, Megakaryoblastic, Acute / mortality. Leukemia, Megakaryoblastic, Acute / pathology
  • [MeSH-minor] Adult. Aged. Disease-Free Survival. Female. Humans. Male. Middle Aged. Multivariate Analysis. Myelodysplastic Syndromes / mortality. Myelodysplastic Syndromes / pathology. Myelodysplastic Syndromes / therapy. Neoplasms. Neoplasms, Second Primary / mortality. Neoplasms, Second Primary / pathology. Neoplasms, Second Primary / therapy. Primary Myelofibrosis / mortality. Primary Myelofibrosis / pathology. Primary Myelofibrosis / therapy. Retrospective Studies

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 16123215.001).
  • [ISSN] 0006-4971
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] United States
  •  go-up   go-down


Advertisement
4. Kanegane H, Watanabe S, Nomura K, Xu G, Ito E, Miyawaki T: Distinct clones are associated with the development of transient myeloproliferative disorder and acute megakaryocytic leukemia in a patient with Down syndrome. Int J Hematol; 2007 Oct;86(3):250-2
MedlinePlus Health Information. consumer health - Down Syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Distinct clones are associated with the development of transient myeloproliferative disorder and acute megakaryocytic leukemia in a patient with Down syndrome.
  • Children with Down syndrome (DS) have an approximately 20-fold higher incidence of leukemia than unaffected children, and most leukemia cases with DS present as acute megakaryocytic leukemia (AMKL).
  • At least 10% of neonates with DS develop transient myeloproliferative disorder (TMD), and 20% to 30% of patients with TMD develop AMKL.
  • Mutations in the GATA1 gene are identified not only in AMKL patients but also in TMD patients; however, sequential analysis of GATA1 is not often performed in the same patients.
  • We describe a child with DS who developed TMD followed by AMKL and have identified different mutations in the GATA1 gene during the course of TMD and AMKL.
  • Distinct clones were associated with the development of TMD and AMKL in this patient.
  • [MeSH-major] Down Syndrome / complications. Leukemia, Megakaryoblastic, Acute / etiology. Myeloproliferative Disorders / complications

  • Genetic Alliance. consumer health - Down Syndrome.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 17988992.001).
  • [ISSN] 0925-5710
  • [Journal-full-title] International journal of hematology
  • [ISO-abbreviation] Int. J. Hematol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  •  go-up   go-down


5. Ge Y, Stout ML, Tatman DA, Jensen TL, Buck S, Thomas RL, Ravindranath Y, Matherly LH, Taub JW: GATA1, cytidine deaminase, and the high cure rate of Down syndrome children with acute megakaryocytic leukemia. J Natl Cancer Inst; 2005 Feb 2;97(3):226-31
NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] GATA1, cytidine deaminase, and the high cure rate of Down syndrome children with acute megakaryocytic leukemia.
  • Down syndrome children with acute megakaryocytic leukemia (AMkL) have higher cure rates than non-Down syndrome acute myeloid leukemia (AML) patients treated with cytosine arabinoside (ara-C).
  • Somatic mutations in the GATA1 transcription factor have been detected exclusively and almost uniformly in Down syndrome AMkL patients, suggesting a potential linkage to the chemotherapy sensitivity of Down syndrome megakaryoblasts.
  • Stable transfection of wild-type GATA1 cDNA into the Down syndrome AMkL cell line CMK resulted in decreased (8- to 17-fold) ara-C sensitivity and a threefold-lower generation of the active ara-C metabolite ara-CTP compared with that for mock-transfected CMK cells.
  • These results suggest that GATA1 transcriptionally upregulates cytidine deaminase and that the presence or absence of GATA1 mutations in AML blasts likely confers differences in ara-C sensitivities due to effects on cytidine deaminase gene expression, which, in turn, contributes to the high cure rate of Down syndrome AMkL patients.
  • [MeSH-major] Cytidine Deaminase / metabolism. DNA-Binding Proteins / metabolism. Down Syndrome / complications. Down Syndrome / metabolism. Leukemia, Megakaryoblastic, Acute / metabolism. Transcription Factors / metabolism

  • Genetic Alliance. consumer health - Down Syndrome.
  • MedlinePlus Health Information. consumer health - Down Syndrome.
  • COS Scholar Universe. author profiles.
  • Hazardous Substances Data Bank. CYTARABINE .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 15687366.001).
  • [ISSN] 1460-2105
  • [Journal-full-title] Journal of the National Cancer Institute
  • [ISO-abbreviation] J. Natl. Cancer Inst.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / R01 CA92308
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antimetabolites, Antineoplastic; 0 / DNA-Binding Proteins; 0 / Erythroid-Specific DNA-Binding Factors; 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human; 0 / Transcription Factors; 04079A1RDZ / Cytarabine; 13191-15-6 / Arabinofuranosylcytosine Triphosphate; 3083-77-0 / Arabinofuranosyluracil; EC 3.5.4.5 / Cytidine Deaminase
  •  go-up   go-down


6. Carmichael CL, Majewski IJ, Alexander WS, Metcalf D, Hilton DJ, Hewitt CA, Scott HS: Hematopoietic defects in the Ts1Cje mouse model of Down syndrome. Blood; 2009 Feb 26;113(9):1929-37
Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Down syndrome (DS) persons are born with various hematopoietic abnormalities, ranging from relatively benign, such as neutrophilia and macrocytosis, to a more severe transient myeloproliferative disorder (TMD).
  • However, sometimes the TMD represents a premalignant disease that develops into acute megakaryocytic leukemia (AMKL), usually in association with acquired GATA1 mutations.
  • Despite these defects, the Ts1Cje mice do not develop disease resembling either TMD or AMKL, and this was not altered by a loss of function allele of Gata1.
  • Thus, loss of Gata1 and partial trisomy of chromosome 21 orthologs, when combined, do not appear to be sufficient to induce TMD or AMKL-like phenotypes in mice.
  • [MeSH-major] Disease Models, Animal. Down Syndrome / complications. Hematologic Diseases / etiology


7. Silva ML, Pombo-de-Oliveira MS, Raimondi SC, Mkrtchyan H, Abdelhay E, de Figueiredo AF, de Souza MT, Garcia DR, de Ventura EM, de Sousa AM, Liehr T: Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia. Mol Cytogenet; 2009;2:7
NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia.
  • BACKGROUND: Children with Down syndrome (DS) have an increased risk of childhood acute leukemia, especially acute megakaryoblastic leukemia (AMKL) also called acute myeloid leukemia (AML) type M7.
  • CONCLUSION: Our results corroborate that abnormalities of chromosome 1 are common in DS-associated AMKL.
  • Whether this chromosomal region contains gene(s) involved in hematopoietic malignant transformation remains to be determined.

  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Cancer Genet Cytogenet. 2008 Apr 1;182(1):56-60 [18328953.001]
  • [Cites] Cancer Genet Cytogenet. 2000 Jan 1;116(1):1-5 [10616523.001]
  • [Cites] Early Hum Dev. 2006 Dec;82(12):767-73 [17064858.001]
  • [Cites] Blood. 2006 Jun 15;107(12):4606-13 [16469874.001]
  • [Cites] Nat Rev Cancer. 2005 Jan;5(1):11-20 [15630411.001]
  • [Cites] Leukemia. 1999 Mar;13(3):491-2 [10086746.001]
  • [Cites] Nucleic Acids Res. 1992 Mar 25;20(6):1433 [1313972.001]
  • [Cites] Ann Intern Med. 1985 Sep;103(3):460-2 [2411180.001]
  • [Cites] Blood. 2004 Apr 1;103(7):2480-9 [14656875.001]
  • [Cites] Cytogenet Genome Res. 2003;103(1-2):34-9 [15004461.001]
  • [Cites] Blood. 2004 Jan 15;103(2):399-406 [14512321.001]
  • [Cites] Blood. 2003 Aug 1;102(3):981-6 [12649131.001]
  • [Cites] Cytogenet Genome Res. 2002;98(2-3):118-25 [12697993.001]
  • [Cites] Leukemia. 2003 Feb;17(2):277-82 [12592323.001]
  • [Cites] J Pediatr Hematol Oncol. 2002 Jan;24(1):14-7 [11902731.001]
  • [Cites] Int J Mol Med. 2002 Apr;9(4):335-9 [11891523.001]
  • [Cites] Blood. 2008 Feb 1;111(3):1575-83 [17971484.001]
  • (PMID = 19228396.001).
  • [ISSN] 1755-8166
  • [Journal-full-title] Molecular cytogenetics
  • [ISO-abbreviation] Mol Cytogenet
  • [Language] eng
  • [Publication-type] Editorial
  • [Publication-country] United States
  • [Other-IDs] NLM/ PMC2653040
  •  go-up   go-down


8. Garderet L, Labopin M, Gorin NC, Polge E, Baruchel A, Meloni G, Ortega J, Vossen J, Bunjes D, Leverger G, Blaise D, Ferrant A, Brune M, Dore E, Gadner H, Zintl F, Yaniv I, Dini G, Frassoni F, Acute Leukemia Working Party and Pediatric Working Party of the European Group for Blood and Marrow Transplantation: Hematopoietic stem cell transplantation for de novo acute megakaryocytic leukemia in first complete remission: a retrospective study of the European Group for Blood and Marrow Transplantation (EBMT). Blood; 2005 Jan 1;105(1):405-9
Genetic Alliance. consumer health - Transplantation.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Hematopoietic stem cell transplantation for de novo acute megakaryocytic leukemia in first complete remission: a retrospective study of the European Group for Blood and Marrow Transplantation (EBMT).
  • Acute megakaryoblastic leukemia (M7 AML) is a highly aggressive disease.
  • We evaluated outcomes in 57 children (11 with Down syndrome) and 69 adults with M7 AML after first complete remission (CR1) following autologous or HLA-identical allogeneic transplantation.
  • Results for autologous transplantation were (children and adults, respectively): engraftment, 90% and 100%; 3-year treatment-related mortality (TRM) rate, 3% and 8%; relapse rate, 45% and 64%; leukemia-free survival (LFS) rate, 52% and 27%; overall survival (OS) rate, 61% and 30%.
  • We conclude that M7 AML patients in CR1 (except children with Down syndrome, who already have better outcomes) can benefit from transplantation.
  • [MeSH-major] Hematopoietic Stem Cell Transplantation. Leukemia, Megakaryoblastic, Acute / pathology. Leukemia, Megakaryoblastic, Acute / surgery
  • [MeSH-minor] Adolescent. Adult. Aged. Child. Child, Preschool. Disease-Free Survival. Down Syndrome / complications. Europe. Female. Graft vs Host Disease / immunology. Humans. Infant. Male. Middle Aged. Prognosis. Recurrence. Retrospective Studies. Survival Rate. Transplantation, Autologous / adverse effects. Transplantation, Homologous / adverse effects

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 15191953.001).
  • [ISSN] 0006-4971
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  •  go-up   go-down


9. Stepensky P, Brooks R, Waldman E, Revel-Vilk S, Izraeli S, Resnick I, Weintraub M: A rare case of GATA1 negative chemoresistant acute megakaryocytic leukemia in an 8-month-old infant with trisomy 21. Pediatr Blood Cancer; 2010 Jul 1;54(7):1048-9
MedlinePlus Health Information. consumer health - Down Syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A rare case of GATA1 negative chemoresistant acute megakaryocytic leukemia in an 8-month-old infant with trisomy 21.
  • Children with Down syndrome (DS) have a unique form of acute megakaryocytic leukemia (AMKL) characterized by the presence of mutations in the GATA1 gene leading to increased chemosensitivity and a favorable outcome.
  • We describe an 8-month-old male with DS who was diagnosed with AMKL without a mutation in the GATA1 gene.
  • The patient was treated according to the DS-AML-regimen but his disease progressed and he succumbed 9 months later.
  • This rare case of DS AMKL without a GATA1 mutation with an unfavorable outcome suggests that GATA1 testing may play a useful role in initial stratification.
  • [MeSH-major] Down Syndrome / complications. GATA1 Transcription Factor / genetics. Leukemia, Megakaryoblastic, Acute / complications

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Copyright] Copyright 2010 Wiley-Liss, Inc.
  • (PMID = 20108342.001).
  • [ISSN] 1545-5017
  • [Journal-full-title] Pediatric blood & cancer
  • [ISO-abbreviation] Pediatr Blood Cancer
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antineoplastic Agents; 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human
  •  go-up   go-down


10. Qayed M, Ahmed I, Valentini RP, Cushing B, Rajpurkar M: Hypercalcemia in pediatric acute megakaryocytic leukemia: case report and review of the literature. J Pediatr Hematol Oncol; 2009 May;31(5):373-6
The Weizmann Institute of Science GeneCards and MalaCards databases. gene/protein/disease-specific - MalaCards for megakaryocytic leukemia .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Hypercalcemia in pediatric acute megakaryocytic leukemia: case report and review of the literature.
  • Here, we report an 8-month-old non-Down syndrome infant with acute megakaryocytic leukemia and severe hypercalcemia at presentation.
  • A review of the literature reveals that this is the first case of hypercalcemia complicating acute megakaryocytic leukemia reported in the pediatric literature.
  • [MeSH-major] Hypercalcemia / etiology. Leukemia, Megakaryoblastic, Acute / complications

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19415024.001).
  • [ISSN] 1536-3678
  • [Journal-full-title] Journal of pediatric hematology/oncology
  • [ISO-abbreviation] J. Pediatr. Hematol. Oncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Bone Density Conservation Agents; 0 / Diphosphonates; OYY3447OMC / pamidronate
  • [Number-of-references] 34
  •  go-up   go-down


11. Lam HK, Li K, Chik KW, Yang M, Liu VC, Li CK, Fok TF, Ng PC, Shing MM, Chuen CK, Yuen PM: Arsenic trioxide mediates intrinsic and extrinsic pathways of apoptosis and cell cycle arrest in acute megakaryocytic leukemia. Int J Oncol; 2005 Aug;27(2):537-45
NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Arsenic trioxide mediates intrinsic and extrinsic pathways of apoptosis and cell cycle arrest in acute megakaryocytic leukemia.
  • Arsenic trioxide (ATO) induces apoptosis in a range of solid tumors and leukemia cells, and has been clinically applied for the treatment of acute promyelocytic leukemia with confirmed efficacy.
  • Acute megakaryocytic leukemia (AMKL) is an aggressive malignancy with poor prognosis, if bone marrow transplantation is not possible.
  • In this study, we applied flow cytometry, Western blot analysis and microarray techniques to investigate the effects of ATO on apoptosis and the cell division cycle of AMKL cell lines CHRF-288-11 and MEG-01.
  • Our data demonstrated that ATO is a potent agent against AMKL as indicated by apoptotic markers, Annexin V and caspase-3.
  • ATO induced delays of cell cycle progression at S phase and arrest at G2/M phase of AMKL cells, but caspase-3 expression appeared not to be phase-specific.
  • The multiple-signaling mechanism of ATO warrants it a potential agent to incorporate in the treatment regimen of AMKL.
  • [MeSH-minor] Antigens, CD / genetics. Antigens, CD / metabolism. Antigens, CD137. Antigens, CD95 / genetics. Antigens, CD95 / metabolism. Caspase 8. Caspase 9. Caspases / genetics. Caspases / metabolism. Cell Line, Tumor. Cell Proliferation / drug effects. Dose-Response Relationship, Drug. Flow Cytometry. Gene Expression Regulation, Neoplastic / drug effects. Gene Expression Regulation, Neoplastic / genetics. Humans. Intracellular Membranes / drug effects. Intracellular Membranes / physiology. Leukemia, Megakaryoblastic, Acute / genetics. Leukemia, Megakaryoblastic, Acute / metabolism. Leukemia, Megakaryoblastic, Acute / pathology. Membrane Potentials / drug effects. Mitochondria / drug effects. Mitochondria / physiology. Oligonucleotide Array Sequence Analysis / methods. Proto-Oncogene Proteins c-bcl-2 / genetics. Proto-Oncogene Proteins c-bcl-2 / metabolism. RNA, Messenger / genetics. RNA, Messenger / metabolism. Receptors, Cell Surface / genetics. Receptors, Cell Surface / metabolism. Receptors, Nerve Growth Factor / genetics. Receptors, Nerve Growth Factor / metabolism. Receptors, Tumor Necrosis Factor / genetics. Receptors, Tumor Necrosis Factor / metabolism. Signal Transduction / drug effects. Time Factors

  • COS Scholar Universe. author profiles.
  • Hazardous Substances Data Bank. ARSENIC TRIOXIDE .
  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 16010437.001).
  • [ISSN] 1019-6439
  • [Journal-full-title] International journal of oncology
  • [ISO-abbreviation] Int. J. Oncol.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Greece
  • [Chemical-registry-number] 0 / Antigens, CD; 0 / Antigens, CD137; 0 / Antigens, CD95; 0 / Arsenicals; 0 / Oxides; 0 / Proto-Oncogene Proteins c-bcl-2; 0 / RNA, Messenger; 0 / Receptors, Cell Surface; 0 / Receptors, Nerve Growth Factor; 0 / Receptors, Tumor Necrosis Factor; 0 / TNFRSF9 protein, human; EC 3.4.22.- / CASP8 protein, human; EC 3.4.22.- / CASP9 protein, human; EC 3.4.22.- / Caspase 8; EC 3.4.22.- / Caspase 9; EC 3.4.22.- / Caspases; S7V92P67HO / arsenic trioxide
  •  go-up   go-down


12. Ru YX, Zhao SY, Liu JH, Mi YC, Zhu XF, Wang HJ, Wang JX: [Ultrastructural characteristics of megakaryocytes in 11 patients with acute megakaryocytic leukemia]. Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2007 Aug;15(4):720-3

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Ultrastructural characteristics of megakaryocytes in 11 patients with acute megakaryocytic leukemia].
  • The purpose of study was to investigate the ultrastructural features of leukemic megakarocyte (LMK) in patients with acute megakaryocytic leukemia (M(7)).

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 17708790.001).
  • [ISSN] 1009-2137
  • [Journal-full-title] Zhongguo shi yan xue ye xue za zhi
  • [ISO-abbreviation] Zhongguo Shi Yan Xue Ye Xue Za Zhi
  • [Language] CHI
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] China
  • [Chemical-registry-number] EC 1.11.1.7 / Peroxidase
  •  go-up   go-down


13. Ueda T, Ito Y, Maeda M, Fukunaga Y: Massive periosteal reaction a presenting feature of acute megakaryocytic leukemia. Pediatr Int; 2007 Dec;49(6):1015-7
NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Massive periosteal reaction a presenting feature of acute megakaryocytic leukemia.
  • Acute megakaryoblastic leukemia (AML M7) is a biologically heterogeneous form of acute myeloid leukemia accounting for 14.6% of cases.
  • In many instances in the past, AML M7 has been classified as undifferentiated leukemia, myelodysplasia, myelofibrosis or some other disease because of its complex clinical presentation or the difficulty of obtaining and interpreting bone marrow samples.
  • However, with currently available morphological, cytochemical, cytogenetic and immunophenotypic methods, AML M7 can now be reliably diagnosed.
  • Although the radiographic spectrum of bony changes in leukemia have been well characterized, skeletal X-ray abnormalities in the setting of AML M7 in pediatric patients have been described in few reports that were associated with bone marrow fibrosis.
  • Here we report on a 14-month-old girl who presented with a massive periosteal reaction of the extremities and clavicles associated with myelofibrosis, a presenting feature of AML M7.
  • [MeSH-major] Hyperostosis / etiology. Leukemia, Megakaryoblastic, Acute / complications. Paraneoplastic Syndromes. Periosteum / pathology. Primary Myelofibrosis / etiology

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 18045316.001).
  • [ISSN] 1328-8067
  • [Journal-full-title] Pediatrics international : official journal of the Japan Pediatric Society
  • [ISO-abbreviation] Pediatr Int
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Australia
  •  go-up   go-down


14. Yamamoto S, Toyama D, Yatsuki H, Higashimoto K, Soejima H, Isoyama K: Acute megakaryocytic leukemia (AMKL,FAB;M7) with Beckwith-Wiedemann syndrome. Pediatr Blood Cancer; 2010 Oct;55(4):733-5
Genetic Alliance. consumer health - Beckwith-Wiedemann Syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Acute megakaryocytic leukemia (AMKL,FAB;M7) with Beckwith-Wiedemann syndrome.
  • Although patients with BWS are known to have a higher incidence of embryonal tumors, there has been no reports associated with acute leukemia.
  • This report describes the case of a patient with BWS who developed Acute Megakaryocytic Leukemia (AMKL,FAB;M7).
  • This patient exhibited no therapy-related toxicity after chemotherapy, suggesting that acute leukemia with BWS may not require a reduction in dosage.
  • [MeSH-major] Beckwith-Wiedemann Syndrome / complications. Leukemia, Megakaryoblastic, Acute / etiology

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Copyright] Copyright 2010 Wiley-Liss, Inc.
  • (PMID = 20589645.001).
  • [ISSN] 1545-5017
  • [Journal-full-title] Pediatric blood & cancer
  • [ISO-abbreviation] Pediatr Blood Cancer
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  •  go-up   go-down


15. Delgado-Lamas JL, Garcés-Ruiz OM, Aguilar-López LB, Borjas-Gutiérrez C, Flores-Márquez MR, Luna-Zaizar H, Delgado-Chávez R: [A clinical and therapeutic analysis in acute megakaryoblastic leukemia]. Rev Med Inst Mex Seguro Soc; 2009 Mar-Apr;47(2):193-8
Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [A clinical and therapeutic analysis in acute megakaryoblastic leukemia].
  • [Transliterated title] Análisis clínico-terapéutico de leucemia aguda megacarioblástica.
  • OBJECTIVE: to show clinical and therapeutic findings in patients with diagnosis of acute megakaryoblastic leukemia (AML).
  • METHODS: twenty four patients with diagnosis AML was carried out.
  • The diagnosis was established by a highly clinical suspicious, with immunophenotype cytometry flow or/and bone biopsy with immunohistochemistry study which proves definitely AML.
  • [MeSH-major] Leukemia, Megakaryoblastic, Acute / diagnosis. Leukemia, Megakaryoblastic, Acute / therapy

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19744390.001).
  • [ISSN] 0443-5117
  • [Journal-full-title] Revista médica del Instituto Mexicano del Seguro Social
  • [ISO-abbreviation] Rev Med Inst Mex Seguro Soc
  • [Language] spa
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] Mexico
  •  go-up   go-down


16. Shin MG, Choi HW, Kim HR, Kim MJ, Baek HJ, Han DK, Kook H, Hwang TJ, Kim HJ, Kim SH, Shin JH, Suh SP, Ryang DW: Tetrasomy 21 as a sole acquired abnormality without GATA1 gene mutation in pediatric acute megakaryoblastic leukemia: a case report and review of the literature. Leuk Res; 2008 Oct;32(10):1615-9
NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Tetrasomy 21 as a sole acquired abnormality without GATA1 gene mutation in pediatric acute megakaryoblastic leukemia: a case report and review of the literature.
  • We report a case of pediatric acute megakaryocytic leukemia (AMKL) showing 48,XX,+21,+21 as a sole acquired cytogenetic abnormality without the mutation of GATA1 gene.
  • We could not find any mutations, including known polymorphisms, which are known to be involved in transient myeloproliferative disorder and acute megakaryocytic leukemia of Down syndrome.
  • [MeSH-major] Aneuploidy. Chromosomes, Human, Pair 21. GATA1 Transcription Factor / genetics. Leukemia, Megakaryoblastic, Acute / genetics

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • The Weizmann Institute of Science GeneCards and MalaCards databases. gene/protein/disease-specific - MalaCards for tetrasomy 21 .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 18372039.001).
  • [ISSN] 0145-2126
  • [Journal-full-title] Leukemia research
  • [ISO-abbreviation] Leuk. Res.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human
  • [Number-of-references] 31
  •  go-up   go-down


17. Zhu L, Wang HX, Lui J, Yan HM, Xue M: [Acute leukemia relapse of donor origin in two cases after haploidentical bone marrow transplantation]. Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2006 Apr;14(2):400-2
Genetic Alliance. consumer health - Transplantation.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Acute leukemia relapse of donor origin in two cases after haploidentical bone marrow transplantation].
  • To investigate the leukemia relapse of AL patients after HLA haploidentical bone marrow transplantation (HLA HBMT), 2 relapsed leukemia patients received HLA HBMT were studied, peripheral blood simples and bone marrow smear were examined, morphologic change of bone marrow cells was observed, while the HLA genotype and chromosome karyotye were analyzed by PCR and routine G-banding methods, respectively.
  • The results indicated that the two cases were diagnosed primarily as acute lymphocytic leukemia (common cell subtype) and acute megakaryocytic leukemia, in which chromosome abnormalities or activation of protooncogene in leukemic cells were observed.
  • The complete hematopuietie reconstitution of donor origin was obtained in these 2 cases after HLA HBMT, but the leukemic cells in these 2 leukemia patients were confirmed to be donor origin after relapse, their blood groups and HLA genotype were found to be originated from donor.
  • These 2 relapsed leukemia patients were diagnosed as acute lymphocytic leukemia (B cell subtype) and acute megakaryocytic leukemia.
  • It is suggested that high-dose of immunosuppressive agents used in transplantation may contribute to leukemia relapse of donor origin in these patients.
  • Abnormalities in hematopoietic microenvironment may be also involved in the leukemia development.
  • Donor-cell leukemia after allogeneic hematopoietic stem cell transplantation can be an ideal model to investigate the related events in human leukemogenesis.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 16638225.001).
  • [ISSN] 1009-2137
  • [Journal-full-title] Zhongguo shi yan xue ye xue za zhi
  • [ISO-abbreviation] Zhongguo Shi Yan Xue Ye Xue Za Zhi
  • [Language] CHI
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] China
  • [Chemical-registry-number] 0 / HLA Antigens
  •  go-up   go-down


18. Pullarkat ST, Vardiman JW, Slovak ML, Rao DS, Rao NP, Bedell V, Said JW: Megakaryocytic blast crisis as a presenting manifestation of chronic myeloid leukemia. Leuk Res; 2008 Nov;32(11):1770-5
The Lens. Cited by Patents in .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Megakaryocytic blast crisis as a presenting manifestation of chronic myeloid leukemia.
  • Acute megakaryocytic leukemia is a rare form of acute myelogenous leukemia and may occur either de novo or by transformation of a preexisting myelodysplastic or myeloproliferative process including blast crisis of chronic myeloid leukemia (CML).
  • Megakaryocytic blast crisis as the presenting manifestation of CML is extremely rare.
  • We describe such a patient with no prior hematologic disease who presented with acute megakaryoblastic leukemia and extramedullary involvement, in whom the leukemic cells carried the BCR-ABL1 translocation as part of a complex karyotype.
  • Using targeted sequential fluorescence in situ hybridization (T-FISH) technique, we detected two copies of BCR-ABL1 fusion gene in the leukemic blasts while the neutrophils carried a single copy of BCR-ABL1 fusion gene, thereby proving the origin of the megakaryoblastic leukemia from a previously undiagnosed CML clone.
  • Blast crisis as a presenting manifestation of CML is rare and detecting clonal evolution of acute leukemia by specialized cytogenetic techniques may have important diagnostic and therapeutic implications.
  • [MeSH-major] Blast Crisis / diagnosis. Fusion Proteins, bcr-abl / genetics. Leukemia, Megakaryoblastic, Acute / pathology. Leukemia, Myelogenous, Chronic, BCR-ABL Positive / diagnosis. Megakaryocytes / pathology


19. Vyas P, Crispino JD: Molecular insights into Down syndrome-associated leukemia. Curr Opin Pediatr; 2007 Feb;19(1):9-14
NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Molecular insights into Down syndrome-associated leukemia.
  • PURPOSE OF REVIEW: Four years ago it was discovered that nearly all cases of transient myeloproliferative disorder and acute megakaryocytic leukemia in children with Down syndrome acquire mutations in the hematopoietic transcription factor gene GATA1.
  • In addition, multiple studies have shown that GATA1s can substitute for GATA1 in many aspects of megakaryocytic maturation.
  • Finally, an important clinical study has revealed that GATA1 mutations alone are insufficient for leukemia.
  • SUMMARY: Leukemia in children with Down syndrome requires at least three cooperating events--trisomy 21, a GATA1 mutation, and a third, as yet undefined, genetic alteration.
  • Future experiments with human patient samples and mouse models will likely increase our awareness of the role of trisomy 21 in transient myeloproliferative disorder and acute megakaryocytic leukemia.

  • Genetic Alliance. consumer health - Down Syndrome.
  • MedlinePlus Health Information. consumer health - Down Syndrome.
  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 17224656.001).
  • [ISSN] 1040-8703
  • [Journal-full-title] Current opinion in pediatrics
  • [ISO-abbreviation] Curr. Opin. Pediatr.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / R01 CA101774; United States / NCI NIH HHS / CA / CA101774; United States / NCI NIH HHS / CA / CA101774-05; United States / NCI NIH HHS / CA / R01 CA101774-05; United Kingdom / Wellcome Trust / /
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human
  • [Number-of-references] 45
  •  go-up   go-down


20. Guo C, Inghirami G, Ibrahim S, Sen F: Epistaxis and severe weakness in a patient with multiple myeloma. Therapy-related acute myeloid leukemia, pure erythroid leukemia. Arch Pathol Lab Med; 2006 Jul;130(7):1075-6
Hazardous Substances Data Bank. MELPHALAN .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Epistaxis and severe weakness in a patient with multiple myeloma. Therapy-related acute myeloid leukemia, pure erythroid leukemia.
  • Therapy-related acute myeloid leukemias arise as a result of cytotoxic chemotherapy and/or radiation therapy.
  • The most common types of acute myeloid leukemia arising in this setting are acute myeloid leukemia with maturation, and lesser numbers of acute myelomonocytic leukemia, acute monocytic leukemia, acute erythroleukemia, or acute megakaryocytic leukemia.
  • We present a patient with multiple myeloma who was treated with melphalan and 4 years later developed acute erythroid leukemia.
  • The morphologic diagnosis of pure erythroid leukemia developing in the setting of multiple myeloma may be challenging.
  • [MeSH-major] Epistaxis / complications. Leukemia, Erythroblastic, Acute / complications. Multiple Myeloma / complications. Muscle Weakness / complications
  • [MeSH-minor] Acute Disease. Aged, 80 and over. Antineoplastic Agents, Alkylating / adverse effects. Humans. Leukemia, Myeloid. Male. Melphalan / adverse effects

  • Genetic Alliance. consumer health - Leukemia, Myeloid.
  • Genetic Alliance. consumer health - Multiple myeloma.
  • MedlinePlus Health Information. consumer health - Multiple Myeloma.
  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 16831041.001).
  • [ISSN] 1543-2165
  • [Journal-full-title] Archives of pathology & laboratory medicine
  • [ISO-abbreviation] Arch. Pathol. Lab. Med.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antineoplastic Agents, Alkylating; Q41OR9510P / Melphalan
  •  go-up   go-down


21. Sato T, Toki T, Kanezaki R, Xu G, Terui K, Kanegane H, Miura M, Adachi S, Migita M, Morinaga S, Nakano T, Endo M, Kojima S, Kiyoi H, Mano H, Ito E: Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome. Br J Haematol; 2008 May;141(5):681-8
NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome.
  • JAK3 mutations have been reported in transient myeloproliferative disorder (TMD) as well as in acute megakaryoblastic leukaemia of Down syndrome (DS-AMKL).
  • To further understand how JAK3 mutations are involved in the development and/or progression of leukaemia in Down syndrome, additional TMD patients and the DS-AMKL cell line MGS were screened for JAK3 mutations, and we examined whether each JAK3 mutation is an activating mutation.
  • These results suggest that the JAK3 activating mutation is an early event during leukaemogenesis in Down syndrome, and they provide proof-of-principle evidence that JAK3 inhibitors would have therapeutic effects on TMD and DS-AMKL patients carrying activating JAK3 mutations.
  • [MeSH-major] Down Syndrome / genetics. Janus Kinase 3 / genetics. Leukemia, Megakaryoblastic, Acute / genetics. Mutation. Myeloproliferative Disorders / genetics

  • Genetic Alliance. consumer health - Down Syndrome.
  • MedlinePlus Health Information. consumer health - Down Syndrome.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 18397343.001).
  • [ISSN] 1365-2141
  • [Journal-full-title] British journal of haematology
  • [ISO-abbreviation] Br. J. Haematol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / JAK3 protein, human; 0 / Neoplasm Proteins; 0 / Quinazolines; 0 / WHI P131; EC 2.7.10.2 / Janus Kinase 3
  •  go-up   go-down


22. Xavier AC, Ge Y, Taub J: Unique clinical and biological features of leukemia in Down syndrome children. Expert Rev Hematol; 2010 Apr;3(2):175-86
MedlinePlus Health Information. consumer health - Down Syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Unique clinical and biological features of leukemia in Down syndrome children.
  • Acute leukemias in children with Down syndrome (DS) are characterized by unique clinical and biological features.
  • Notable among DS children with acute myeloid leukemia (AML), is the high frequency of the acute megakaryocytic leukemia (AMkL) subtype, which uniformly harbor somatic mutations in the transcription factor GATA1 gene.
  • DS patients with AML, and in particular AMkL, have event-free survival rates of 80-100% in contrast to event-free survival rates of less than 35% for non-DS children with AMkL.
  • DS children with acute lymphoblastic leukemia have a more heterogeneous disease, with approximately 30% of the patients having somatic JAK2 mutations, heightened methotrexate sensitivity and higher rates of treatment-related toxicities.
  • These features highlight a striking relationship between genes localized to chromosome 21, leukemogenesis and sensitivity to leukemia chemotherapy agents.
  • [MeSH-major] Down Syndrome / complications. Leukemia, Myeloid, Acute / diagnosis

  • Genetic Alliance. consumer health - Down Syndrome.
  • MedlinePlus Health Information. consumer health - Acute Myeloid Leukemia.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 21083461.001).
  • [ISSN] 1747-4094
  • [Journal-full-title] Expert review of hematology
  • [ISO-abbreviation] Expert Rev Hematol
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / R01 CA 120772
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human; EC 2.7.10.2 / JAK2 protein, human; EC 2.7.10.2 / Janus Kinase 2
  •  go-up   go-down


23. Ng AP, Hyland CD, Metcalf D, Carmichael CL, Loughran SJ, Di Rago L, Kile BT, Alexander WS: Trisomy of Erg is required for myeloproliferation in a mouse model of Down syndrome. Blood; 2010 May 13;115(19):3966-9
The Lens. Cited by Patents in .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • The transient myeloproliferative disorder and acute megakaryocytic leukemia associated with Down syndrome are uniquely associated with mutations in the transcription factor GATA1; however, the identity of trisomic genes on chromosome 21 that predispose to these hematologic disorders remains unknown.
  • Using a loss-of-function allele, we show that specific reduction to functional disomy of the Erg gene corrects the pathologic and hematologic features of myeloproliferation in the Ts(17(16))65Dn mouse model of Down syndrome, including megakaryocytosis and progenitor cell expansion.
  • Our data provide genetic evidence establishing the need for Erg trisomy for myeloproliferation in Ts(17(16))65Dn mice and imply that increased ERG gene dosage may be a key consequence of trisomy 21 that can predispose to malignant hematologic disorders in Down syndrome.
  • [MeSH-major] Disease Models, Animal. Down Syndrome / genetics. Myeloproliferative Disorders / genetics. Oncogene Proteins / genetics. Trisomy / genetics

  • MedlinePlus Health Information. consumer health - Down Syndrome.
  • COS Scholar Universe. author profiles.
  • KOMP Repository. gene/protein/disease-specific - KOMP Repository (subscription/membership/fee required).
  • Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [CommentIn] Blood. 2010 May 13;115(19):3859-60 [20466869.001]
  • (PMID = 20007548.001).
  • [ISSN] 1528-0020
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / ERG protein, mouse; 0 / Oncogene Proteins; 0 / Transcription Factors
  •  go-up   go-down


24. Tefferi A: JAK and MPL mutations in myeloid malignancies. Leuk Lymphoma; 2008 Mar;49(3):388-97
The Lens. Cited by Patents in .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] JAK and MPL mutations in myeloid malignancies.
  • The Janus family of non-receptor tyrosine kinases (JAK1, JAK2, JAK3 and tyrosine kinase 2) transduces signals downstream of type I and II cytokine receptors via signal transducers and activators of transcription (STATs).
  • JAK3 is important in lymphoid and JAK2 in myeloid cell proliferation and differentiation.
  • ETV6-JAK2, PCM1-JAK2, BCR-JAK2) mutations have respectively been described in acute megakaryocytic leukemia and acute leukemia/chronic myeloid malignancies.

  • NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 18297515.001).
  • [ISSN] 1029-2403
  • [Journal-full-title] Leukemia & lymphoma
  • [ISO-abbreviation] Leuk. Lymphoma
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Receptors, Thrombopoietin; 0 / STAT Transcription Factors; 143641-95-6 / MPL protein, human; EC 2.7.10.2 / Janus Kinase 2; EC 2.7.10.2 / Janus Kinase 3
  • [Number-of-references] 167
  •  go-up   go-down


25. Al-Ahmari A, Shah N, Sung L, Zipursky A, Hitzler J: Long-term results of an ultra low-dose cytarabine-based regimen for the treatment of acute megakaryoblastic leukaemia in children with Down syndrome. Br J Haematol; 2006 Jun;133(6):646-8
The Lens. Cited by Patents in .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Long-term results of an ultra low-dose cytarabine-based regimen for the treatment of acute megakaryoblastic leukaemia in children with Down syndrome.
  • Children with acute megakaryoblastic leukaemia (AMKL) and Down syndrome (DS) show a favourable response to chemotherapy, probably due to increased sensitivity of the leukaemic blasts to cytarabine.
  • The survival of children with AMKL and DS was retrospectively compared following treatment with a low-dose chemotherapy protocol, consisting of cytarabine (10 mg/m2/dose), retinylpalmitate and vincristine or standard chemotherapy.
  • Further reduction of treatment intensity in AMKL of children with DS, therefore, appears feasible.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Down Syndrome / drug therapy. Leukemia, Megakaryoblastic, Acute / drug therapy

  • Genetic Alliance. consumer health - Down Syndrome.
  • MedlinePlus Health Information. consumer health - Down Syndrome.
  • Hazardous Substances Data Bank. CYTARABINE .
  • Hazardous Substances Data Bank. VINCRISTINE .
  • Hazardous Substances Data Bank. VITAMIN A .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 16704441.001).
  • [ISSN] 0007-1048
  • [Journal-full-title] British journal of haematology
  • [ISO-abbreviation] Br. J. Haematol.
  • [Language] eng
  • [Publication-type] Journal Article; Multicenter Study
  • [Publication-country] England
  • [Chemical-registry-number] 04079A1RDZ / Cytarabine; 11103-57-4 / Vitamin A; 1D1K0N0VVC / retinol palmitate; 5J49Q6B70F / Vincristine
  •  go-up   go-down


26. Orazi A, O'Malley DP, Jiang J, Vance GH, Thomas J, Czader M, Fang W, An C, Banks PM: Acute panmyelosis with myelofibrosis: an entity distinct from acute megakaryoblastic leukemia. Mod Pathol; 2005 May;18(5):603-14
COS Scholar Universe. author profiles.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Acute panmyelosis with myelofibrosis: an entity distinct from acute megakaryoblastic leukemia.
  • The WHO criteria for diagnosing acute panmyelosis with myelofibrosis are somewhat distinct from those for acute megakaryoblastic leukemia.
  • To determine the potential importance of bone marrow biopsy supplemented by immunohistochemistry in distinguishing between these two conditions, we studied 17 bone marrow biopsies of well-characterized cases of acute panmyelosis with myelofibrosis (six cases) and acute megakaryoblastic leukemia (11 cases).
  • We compared blast frequency, reticulin content, CD34 expression, and the degree of megakaryocytic differentiation of the blast cells in these two conditions.
  • Acute panmyelosis with myelofibrosis is characterized by a multilineage myeloid proliferation with a less numerous population of blasts than acute megakaryoblastic leukemia (P<0.01).
  • In the former condition, blasts are always positive with CD34, while in acute megakaryoblastic leukemia they express CD34 in 60% of the cases.
  • The blasts in acute panmyelosis with myelofibrosis only rarely express megakaryocytic antigens.
  • By contrast, acute megakaryoblastic leukemia has a significantly higher proportion of blasts expressing megakaryocytic antigens (P<0.01 with CD42b).
  • [MeSH-major] Bone Marrow Cells / pathology. Leukemia, Megakaryoblastic, Acute / pathology. Primary Myelofibrosis / pathology
  • [MeSH-minor] Acute Disease. Adolescent. Adult. Aged. Aged, 80 and over. Antigens, CD / analysis. Child. Child, Preschool. Chromosome Aberrations. Diagnosis, Differential. Female. Flow Cytometry. Humans. Karyotyping. Male. Middle Aged

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • Genetic Alliance. consumer health - Myelofibrosis.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 15578075.001).
  • [ISSN] 0893-3952
  • [Journal-full-title] Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
  • [ISO-abbreviation] Mod. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antigens, CD
  •  go-up   go-down


27. Hitzler JK: Acute megakaryoblastic leukemia in Down syndrome. Pediatr Blood Cancer; 2007 Dec;49(7 Suppl):1066-9
COS Scholar Universe. author profiles.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Acute megakaryoblastic leukemia in Down syndrome.
  • Children with Down syndrome (DS) have a 10- to 20-fold increased risk of developing acute leukemia.
  • An estimated 10% of newborns with DS develop Transient Myeloproliferative Disease (TMD) or Transient Leukemia (TL), a clonal accumulation of megakaryoblasts that resolves spontaneously within months.
  • Acute megakaryoblastic leukemia (AMKL) develops in approximately 20% of cases of TMD/TL by 4 years of age.
  • Both the blasts of AMKL and TMD/TL in DS harbor somatic mutations of GATA1, an essential transcriptional regulator of megakaryocytic differentiation.
  • The distinct phenotypes of megakaryoblastic leukemia in DS are a unique biological model of the incremental process of leukemic transformation.
  • [MeSH-major] Down Syndrome / complications. Leukemia, Megakaryoblastic, Acute / etiology

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • Genetic Alliance. consumer health - Down Syndrome.
  • MedlinePlus Health Information. consumer health - Down Syndrome.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Copyright] Copyright 2007 Wiley-Liss, Inc.
  • (PMID = 17943965.001).
  • [ISSN] 1545-5009
  • [Journal-full-title] Pediatric blood & cancer
  • [ISO-abbreviation] Pediatr Blood Cancer
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 49
  •  go-up   go-down


28. Descot A, Rex-Haffner M, Courtois G, Bluteau D, Menssen A, Mercher T, Bernard OA, Treisman R, Posern G: OTT-MAL is a deregulated activator of serum response factor-dependent gene expression. Mol Cell Biol; 2008 Oct;28(20):6171-81
NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • The OTT-MAL/RBM15-MKL1 fusion protein is the result of the recurrent translocation t(1;22) in acute megakaryocytic leukemia in infants.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Immunity. 2003 Feb;18(2):301-12 [12594956.001]
  • [Cites] Mol Biol Cell. 2002 Dec;13(12):4167-78 [12475943.001]
  • [Cites] Genes Dev. 2003 Aug 1;17(15):1909-20 [12897056.001]
  • [Cites] Mol Cell Biol. 2003 Sep;23(18):6597-608 [12944485.001]
  • [Cites] EMBO J. 2004 Oct 13;23(20):3973-83 [15385960.001]
  • [Cites] Blood. 1991 Aug 1;78(3):748-52 [1859887.001]
  • [Cites] Mol Cell Biol. 1996 May;16(5):2473-82 [8628315.001]
  • [Cites] Cell. 1998 Feb 20;92(4):475-87 [9491889.001]
  • [Cites] Cell. 1999 Jul 23;98(2):159-69 [10428028.001]
  • [Cites] Biochemistry. 1999 Aug 17;38(33):10678-90 [10451362.001]
  • [Cites] J Biol Chem. 2005 Nov 4;280(44):36935-45 [16129689.001]
  • [Cites] Mol Cell Biol. 2006 Jun;26(11):4134-48 [16705166.001]
  • [Cites] Genetics. 2006 May;173(1):279-86 [16547102.001]
  • [Cites] Trends Cell Biol. 2006 Nov;16(11):588-96 [17035020.001]
  • [Cites] Curr Opin Genet Dev. 2007 Feb;17(1):52-9 [17178457.001]
  • [Cites] Cancer Cell. 2007 Feb;11(2):133-46 [17292825.001]
  • [Cites] Mol Cell Biol. 2007 Apr;27(8):3056-64 [17283045.001]
  • [Cites] Proc Natl Acad Sci U S A. 2007 Apr 3;104(14):6001-6 [17376872.001]
  • [Cites] Science. 2007 Jun 22;316(5832):1749-52 [17588931.001]
  • [Cites] Am J Physiol Regul Integr Comp Physiol. 2000 Oct;279(4):R1455-66 [11004016.001]
  • [Cites] Nat Med. 2000 Nov;6(11):1278-81 [11062542.001]
  • [Cites] Genes Dev. 2001 May 1;15(9):1140-51 [11331609.001]
  • [Cites] Proc Natl Acad Sci U S A. 2001 May 8;98(10):5776-9 [11344311.001]
  • [Cites] Nat Genet. 2001 Jul;28(3):220-1 [11431691.001]
  • [Cites] Cell. 2001 Jun 29;105(7):851-62 [11439182.001]
  • [Cites] Genes Chromosomes Cancer. 2002 Jan;33(1):22-8 [11746984.001]
  • [Cites] Development. 2000 Apr;127(7):1517-29 [10704397.001]
  • [Cites] Curr Biol. 2000 Jul 27-Aug 10;10(15):943-6 [10959845.001]
  • [Cites] J Biol Chem. 2002 Aug 9;277(32):28853-60 [12019265.001]
  • [Cites] Nature. 2002 Sep 12;419(6903):182-5 [12226669.001]
  • [Cites] EMBO J. 2002 Oct 15;21(20):5417-26 [12374742.001]
  • [Cites] Cell. 2003 May 2;113(3):329-42 [12732141.001]
  • (PMID = 18710951.001).
  • [ISSN] 1098-5549
  • [Journal-full-title] Molecular and cellular biology
  • [ISO-abbreviation] Mol. Cell. Biol.
  • [Language] ENG
  • [Grant] United Kingdom / Cancer Research UK / /
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Actins; 0 / Early Growth Response Protein 1; 0 / OTT-MAL fusion protein, human; 0 / Oncogene Proteins, Fusion; 0 / Proto-Oncogene Proteins c-fos; 0 / Serum Response Factor; 0 / Ternary Complex Factors; EC 2.7.11.24 / Extracellular Signal-Regulated MAP Kinases; EC 3.6.5.2 / rhoA GTP-Binding Protein
  • [Other-IDs] NLM/ PMC2577437
  •  go-up   go-down


29. Hussein K, Bock O, Theophile K, Schulz-Bischof K, Porwit A, Schlue J, Jonigk D, Kreipe H: MPLW515L mutation in acute megakaryoblastic leukaemia. Leukemia; 2009 May;23(5):852-5
MedlinePlus Health Information. consumer health - Chronic Myeloid Leukemia.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] MPLW515L mutation in acute megakaryoblastic leukaemia.
  • A series of primary and secondary acute myeloid leukaemias (AML) with megakaryoblastic phenotype and myelofibrosis unrelated to PMF (n=12) was analysed for the MPL(W515K/L) mutation by pyrosequencing.
  • We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias with myelofibrosis unrelated to PMF.
  • [MeSH-major] Leukemia, Megakaryoblastic, Acute / genetics. Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics. Mutation / genetics. Primary Myelofibrosis / genetics. Receptors, Thrombopoietin / genetics

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [CommentIn] Leukemia. 2009 Nov;23(11):2159-60 [19657363.001]
  • (PMID = 19194467.001).
  • [ISSN] 1476-5551
  • [Journal-full-title] Leukemia
  • [ISO-abbreviation] Leukemia
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Receptors, Thrombopoietin; 143641-95-6 / MPL protein, human; EC 2.7.10.2 / JAK2 protein, human; EC 2.7.10.2 / Janus Kinase 2
  •  go-up   go-down


30. Ge Y, Dombkowski AA, LaFiura KM, Tatman D, Yedidi RS, Stout ML, Buck SA, Massey G, Becton DL, Weinstein HJ, Ravindranath Y, Matherly LH, Taub JW: Differential gene expression, GATA1 target genes, and the chemotherapy sensitivity of Down syndrome megakaryocytic leukemia. Blood; 2006 Feb 15;107(4):1570-81
NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Differential gene expression, GATA1 target genes, and the chemotherapy sensitivity of Down syndrome megakaryocytic leukemia.
  • Children with Down syndrome (DS) with acute megakaryocytic leukemia (AMkL) have very high survival rates compared with non-DS AMkL patients.
  • Somatic mutations identified in the X-linked transcription factor gene, GATA1, in essentially all DS AMkL cases result in the synthesis of a shorter (40 kDa) protein (GATA1s) with altered transactivation activity and may lead to altered expression of GATA1 target genes.
  • Using the Affymetrix U133A microarray chip, we identified 551 differentially expressed genes between DS and non-DS AMkL samples.
  • Transcripts for the bone marrow stromal-cell antigen 2 (BST2) gene, encoding a transmembrane glycoprotein potentially involved in interactions between leukemia cells and bone marrow stromal cells, were 7.3-fold higher (validated by real-time polymerase chain reaction) in the non-DS compared with the DS group.
  • Our results demonstrate that genes that account for differences in survival between DS and non-DS AMkL cases may be identified by microarray analysis and that differential gene expression may reflect relative transactivation capacities of the GATA1s and full-length GATA1 proteins.

  • Genetic Alliance. consumer health - Down Syndrome.
  • MedlinePlus Health Information. consumer health - Down Syndrome.
  • COS Scholar Universe. author profiles.
  • Hazardous Substances Data Bank. CYTARABINE .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Leukemia. 2000 May;14(5):786-91 [10803507.001]
  • [Cites] Leukemia. 2005 Aug;19(8):1355-60 [15920490.001]
  • [Cites] J Pediatr Hematol Oncol. 2001 Mar-Apr;23(3):175-8 [11305722.001]
  • [Cites] Blood. 2001 Jun 15;97(12):3727-32 [11389009.001]
  • [Cites] Leukemia. 2002 Sep;16(9):1713-24 [12200686.001]
  • [Cites] Nat Genet. 2002 Sep;32(1):148-52 [12172547.001]
  • [Cites] Blood. 2003 Feb 15;101(4):1551-7 [12393509.001]
  • [Cites] Blood. 2003 Jun 1;101(11):4298-300 [12560215.001]
  • [Cites] Blood. 2003 Jun 1;101(11):4301-4 [12586620.001]
  • [Cites] Blood. 2003 Aug 1;102(3):981-6 [12649131.001]
  • [Cites] J Clin Oncol. 2003 Sep 15;21(18):3415-22 [12885836.001]
  • [Cites] Cancer Res. 2004 Jan 15;64(2):728-35 [14744791.001]
  • [Cites] Blood. 2004 Apr 15;103(8):3242-3 [15070711.001]
  • [Cites] N Engl J Med. 2004 Apr 15;350(16):1617-28 [15084694.001]
  • [Cites] Br J Haematol. 2004 Jun;125(6):729-42 [15180862.001]
  • [Cites] Leukemia. 2004 Oct;18(10):1617-23 [15343346.001]
  • [Cites] Haematol Blood Transfus. 1989;32:172-7 [2696678.001]
  • [Cites] Blood. 1992 Nov 1;80(9):2210-4 [1384797.001]
  • [Cites] Leuk Res. 1994 Mar;18(3):163-71 [8139285.001]
  • [Cites] Genomics. 1995 Apr 10;26(3):527-34 [7607676.001]
  • [Cites] N Engl J Med. 1996 May 30;334(22):1428-34 [8618581.001]
  • [Cites] Blood. 1998 Jan 15;91(2):608-15 [9427716.001]
  • [Cites] Biochem Biophys Res Commun. 1999 May 19;258(3):583-91 [10329429.001]
  • [Cites] Leukemia. 1999 Jun;13(6):935-43 [10360383.001]
  • [Cites] Blood. 1999 Aug 15;94(4):1393-400 [10438727.001]
  • [Cites] Blood. 2004 Dec 1;104(12):3679-87 [15226186.001]
  • [Cites] Pediatr Blood Cancer. 2005 Jan;44(1):33-9 [15390307.001]
  • [Cites] Mol Cancer Ther. 2005 Jan;4(1):151-68 [15657362.001]
  • [Cites] J Natl Cancer Inst. 2005 Feb 2;97(3):226-31 [15687366.001]
  • [Cites] Br J Haematol. 2005 Mar;128(6):797-804 [15755283.001]
  • [Cites] Exp Hematol. 2001 Apr;29(4):448-57 [11301185.001]
  • (PMID = 16249385.001).
  • [ISSN] 0006-4971
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] ENG
  • [Grant] United States / NIEHS NIH HHS / ES / P30 ES06639; United States / NCI NIH HHS / CA / R01 CA92308
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA Primers; 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human; 04079A1RDZ / Cytarabine; EC 1.13.12.- / Luciferases
  • [Other-IDs] NLM/ PMC1895418
  •  go-up   go-down


31. Nornhold E, Li A, Rothman IL, Lakshminrusimha S, Helm TN: Vesiculopustular eruption associated with transient myeloproliferative disorder. Cutis; 2009 May;83(5):234-6

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Vesiculopustular eruption associated with transient myeloproliferative disorder.
  • Transient myeloproliferative disorder (TMD) is a hematologic abnormality usually associated with Down syndrome that may present with a skin eruption in addition to typical systemic findings.
  • Mutations of the globin transcription factor 1 gene, GATA1, are associated with both TMD and acute megakaryocytic leukemia.
  • Transient myeloproliferative disorder typically presents with pancytopenia, hepatosplenomegaly, and immature circulating white blood cells, and affects approximately 10% of neonates with Down syndrome.
  • However, 20% to 30% of neonates with Down syndrome and TMD later develop leukemia.
  • We report an illustrative case to alert clinicians about this uncommon cause of vesiculopustular eruption in a neonate without the phenotypic characteristics of Down syndrome and review the clinical findings and laboratory studies that aid in accurate diagnosis.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19537279.001).
  • [ISSN] 0011-4162
  • [Journal-full-title] Cutis
  • [ISO-abbreviation] Cutis
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  •  go-up   go-down


32. Kawamura M, Kaku H, Taketani T, Taki T, Shimada A, Hayashi Y: Mutations of GATA1, FLT3, MLL-partial tandem duplication, NRAS, and RUNX1 genes are not found in a 7-year-old Down syndrome patient with acute myeloid leukemia (FAB-M2) having a good prognosis. Cancer Genet Cytogenet; 2008 Jan 1;180(1):74-8
MedlinePlus Health Information. consumer health - Down Syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Mutations of GATA1, FLT3, MLL-partial tandem duplication, NRAS, and RUNX1 genes are not found in a 7-year-old Down syndrome patient with acute myeloid leukemia (FAB-M2) having a good prognosis.
  • The prognosis of leukemia developed in Down syndrome (DS) patients has improved markedly.
  • Most DS leukemia occurs before 3 years of age and is classified as acute megakaryocytic leukemia (AMKL).
  • Mutations in the GATA1 gene have been found in almost all DS patients with AMKL.
  • In contrast, it has been shown that occurrence of DS acute myeloid leukemia (DS-AML) after 3 years of age may indicate a higher risk for a poor prognosis, but its frequency is very low.
  • We here describe the case of a 7-year-old DS boy with AML-M2, who had no history of transient abnormal myelopoiesis or any clinical poor prognostic factors, such as high white blood cell counts or extramedullary infiltration.
  • [MeSH-major] Core Binding Factor Alpha 2 Subunit / genetics. Down Syndrome / complications. GATA1 Transcription Factor / genetics. Leukemia, Promyelocytic, Acute / genetics. Myeloid-Lymphoid Leukemia Protein / genetics. fms-Like Tyrosine Kinase 3 / genetics

  • Genetic Alliance. consumer health - Down Syndrome.
  • Genetic Alliance. consumer health - Good Syndrome.
  • Genetic Alliance. consumer health - Leukemia, Myeloid.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 18068539.001).
  • [ISSN] 0165-4608
  • [Journal-full-title] Cancer genetics and cytogenetics
  • [ISO-abbreviation] Cancer Genet. Cytogenet.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Core Binding Factor Alpha 2 Subunit; 0 / GATA1 Transcription Factor; 0 / MLL protein, human; 0 / RUNX1 protein, human; 149025-06-9 / Myeloid-Lymphoid Leukemia Protein; EC 2.1.1.43 / Histone-Lysine N-Methyltransferase; EC 2.7.10.1 / FLT3 protein, human; EC 2.7.10.1 / fms-Like Tyrosine Kinase 3
  •  go-up   go-down


33. Walters DK, Mercher T, Gu TL, O'Hare T, Tyner JW, Loriaux M, Goss VL, Lee KA, Eide CA, Wong MJ, Stoffregen EP, McGreevey L, Nardone J, Moore SA, Crispino J, Boggon TJ, Heinrich MC, Deininger MW, Polakiewicz RD, Gilliland DG, Druker BJ: Activating alleles of JAK3 in acute megakaryoblastic leukemia. Cancer Cell; 2006 Jul;10(1):65-75
The Lens. Cited by Patents in .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Activating alleles of JAK3 in acute megakaryoblastic leukemia.
  • Tyrosine kinases are aberrantly activated in numerous malignancies, including acute myeloid leukemia (AML).
  • This allowed the identification of an activating mutation (A572V) in the JAK3 pseudokinase domain in the acute megakaryoblastic leukemia (AMKL) cell line CMK.
  • Subsequent analysis identified two additional JAK3 alleles, V722I and P132T, in AMKL patients.
  • JAK3(A572V), JAK3(V722I), and JAK3(P132T) each transform Ba/F3 cells to factor-independent growth, and JAK3(A572V) confers features of megakaryoblastic leukemia in a murine model.

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • COS Scholar Universe. author profiles.
  • Hazardous Substances Data Bank. IMATINIB MESYLATE .
  • Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .
  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 16843266.001).
  • [ISSN] 1535-6108
  • [Journal-full-title] Cancer cell
  • [ISO-abbreviation] Cancer Cell
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA101774-04; United States / NCI NIH HHS / CA / R01 CA101774; United States / NCI NIH HHS / CA / R01 CA101774-04
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Benzamides; 0 / JAK3 protein, human; 0 / Mutant Proteins; 0 / Piperazines; 0 / Protein Kinase Inhibitors; 0 / Proto-Oncogene Proteins; 0 / Pyrimidines; 0 / RNA, Small Interfering; 8A1O1M485B / Imatinib Mesylate; EC 2.7.10.1 / Protein-Tyrosine Kinases; EC 2.7.10.2 / JAK2 protein, human; EC 2.7.10.2 / Jak2 protein, mouse; EC 2.7.10.2 / Jak3 protein, mouse; EC 2.7.10.2 / Janus Kinase 2; EC 2.7.10.2 / Janus Kinase 3; EC 2.7.10.2 / TYK2 Kinase; EC 2.7.10.2 / TYK2 protein, human
  •  go-up   go-down


34. Sharma S, Nangia A, Jain Malhotra S, Narayan S, Harbhajanka A, Singh S: Clinico-haematological profile of acute megakaryoblastic leukaemia: report of five cases. Adv Hematol; 2009;2009:461912

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Clinico-haematological profile of acute megakaryoblastic leukaemia: report of five cases.
  • Acute megakaryoblastic leukemia (AMKL) is a rare subtype of acute myeloid leukemia.
  • We herein present the clinical, morphological, cytochemical, and immunocytochemical features of five cases of AMKL.
  • Certain morphological features such as presence of abnormal platelet count, giant platelets, and cytoplasmic blebbing in blasts were found to be important pointers towards the diagnosis.
  • However, none of the features were found to be consistent and thus morphological diagnosis has to be confirmed by cytochemistry and immunocytochemistry.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Leuk Res. 2008 Nov;32(11):1770-5 [18417213.001]
  • [Cites] Br J Haematol. 2008 Mar;140(5):552-61 [18275433.001]
  • [Cites] Blood. 2006 Feb 1;107(3):880-4 [16123215.001]
  • [Cites] Blood. 1998 Jan 15;91(2):608-15 [9427716.001]
  • [Cites] Cancer. 1992 Jul 15;70(2):451-8 [1319816.001]
  • [Cites] Blood. 2000 Oct 1;96(7):2405-11 [11001891.001]
  • [Cites] Rinsho Ketsueki. 1991 Aug;32(8):868-73 [1942527.001]
  • [Cites] Rinsho Ketsueki. 1989 Jul;30(7):1084-8 [2810795.001]
  • [Cites] Leukemia. 2002 Sep;16(9):1622-6 [12200673.001]
  • [Cites] Blood. 2001 Jun 15;97(12):3727-32 [11389009.001]
  • [Cites] Rinsho Ketsueki. 1992 Apr;33(4):500-6 [1602615.001]
  • (PMID = 19960061.001).
  • [ISSN] 1687-9112
  • [Journal-full-title] Advances in hematology
  • [ISO-abbreviation] Adv Hematol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Egypt
  • [Other-IDs] NLM/ PMC2778566
  •  go-up   go-down


35. Sekikawa T, Iwase S, Saito S, Arakawa Y, Agawa M, Horiguchi-Yamada J, Yamada H: JAS-R, a new megakaryo-erythroid leukemic cell line that secretes erythropoietin. Anticancer Res; 2006 Mar-Apr;26(2A):843-50
NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Leukemic cell lines derived from megakaryocytic leukemia are valuable reagents for studies on these events.
  • MATERIALS AND METHODS: A new cell line, JAS-R, was established from a 64-year-old patient with acute megakaryocytic leukemia (AML M7).
  • [MeSH-major] Cell Line, Tumor / pathology. Erythropoietin / secretion. Leukemia, Erythroblastic, Acute / pathology. Leukemia, Megakaryoblastic, Acute / pathology

  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 16619478.001).
  • [ISSN] 0250-7005
  • [Journal-full-title] Anticancer research
  • [ISO-abbreviation] Anticancer Res.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Greece
  • [Chemical-registry-number] 11096-26-7 / Erythropoietin
  •  go-up   go-down


36. Barnard DR, Alonzo TA, Gerbing RB, Lange B, Woods WG, Children's Oncology Group: Comparison of childhood myelodysplastic syndrome, AML FAB M6 or M7, CCG 2891: report from the Children's Oncology Group. Pediatr Blood Cancer; 2007 Jul;49(1):17-22
The Lens. Cited by Patents in .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Comparison of childhood myelodysplastic syndrome, AML FAB M6 or M7, CCG 2891: report from the Children's Oncology Group.
  • BACKGROUND: Myelodysplastic syndromes (MDS), acute erythroleukemia (FAB M6), and acute megakaryocytic leukemia (FAB M7) have overlapping features.
  • PROCEDURE: Children without Down syndrome or acute promyelocytic leukemia who were newly diagnosed with primary myelodysplastic syndrome or acute myeloid leukemia (AML) M6 or M7 were compared to children with de novo AML M0-M5.
  • RESULTS: The presentation and outcomes of the 132 children diagnosed with MDS (60 children), AML FAB M6 (19 children), or AML FAB M7 (53 children) were similar.
  • Children with AML FAB M7 were diagnosed at a significantly younger age (P = 0.001).
  • Children with MDS, M6, or M7 had significantly lower white blood cell (WBC) counts (P = 0.001), lower peripheral blast counts (P < 0.001), and an increased frequency of -7/7q- (P = 0.003) at presentation.
  • All three groups had significantly inferior overall survival (OS) (P < 0.001) and event free survival (P < 0.001) compared with the 748 children diagnosed with AML FAB M0-M5 when assessed from entry on study.
  • However, when assessed from successful completion of induction therapy, the 5-year OS (P = 0.090)(49.1 vs. 56.9%) and disease-free survival (DFS) (P = 0.113)(38.0 vs. 46.3%) therapy were not significantly different from other children with AML.
  • CONCLUSIONS: Childhood AML FAB M6 and AML M7 resemble MDS in presentation, poor induction success rates, and outcomes.
  • [MeSH-major] Leukemia, Erythroblastic, Acute / diagnosis. Leukemia, Megakaryoblastic, Acute / diagnosis. Myelodysplastic Syndromes / diagnosis
  • [MeSH-minor] Acute Disease. Child. Child, Preschool. Diagnosis, Differential. Disease-Free Survival. Female. Humans. Male. Prognosis. Remission Induction. Survival Rate. Treatment Outcome


37. Berger R, Busson M, Dastugue N, Radford-Weiss I, Michaux L, Hagemeijer A, Quilichini B, Benattar L, Bernard O, Romana SP: Acute megakaryoblastic leukemia and loss of the RUNX1 gene. Cancer Genet Cytogenet; 2006 Jan 1;164(1):71-3
Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Acute megakaryoblastic leukemia and loss of the RUNX1 gene.
  • Since the RUNX1 gene contributes to megakaryopoiesis and acquired trisomy 21 is the most frequent numerical chromosome anomaly in acute megakaryoblastic leukemia (AMLK), a systematic study of RUNX1 abnormalities was performed by fluorescence in situ hybridization in AMLK patients.
  • [MeSH-major] Core Binding Factor Alpha 2 Subunit / genetics. Gene Deletion. Leukemia, Megakaryoblastic, Acute / genetics

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 16364766.001).
  • [ISSN] 0165-4608
  • [Journal-full-title] Cancer genetics and cytogenetics
  • [ISO-abbreviation] Cancer Genet. Cytogenet.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Core Binding Factor Alpha 2 Subunit; 0 / RUNX1 protein, human
  •  go-up   go-down


38. Amemiya S, Akahane M, Takita J, Igarashi T, Ohtomo K: Imaging findings of upper abdominal involvement by acute megakaryoblastic leukaemia. Pediatr Radiol; 2008 Apr;38(4):457-61
MedlinePlus Health Information. consumer health - Liver Cancer.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Imaging findings of upper abdominal involvement by acute megakaryoblastic leukaemia.
  • Acute megakaryoblastic leukaemia (AMKL), a relatively rare type of acute myeloid leukaemia, is characterized by frequent involvement of the liver, spleen and lymph nodes in addition to myelofibrosis in children.
  • Diagnosis is difficult both clinically and pathologically, and the hepatic or lymph node involvement is not uncommonly misinterpreted as solid tumour.
  • We report the imaging findings of upper abdominal involvement by AMKL in an infant.
  • With the association of splenic lesion and lymphadenopathy, the imaging findings were considered indicative of a haematological disorder.
  • [MeSH-major] Leukemia, Megakaryoblastic, Acute / diagnosis. Liver Neoplasms / diagnosis
  • [MeSH-minor] Contrast Media. Diagnosis, Differential. Fatal Outcome. Humans. Infant. Magnetic Resonance Imaging. Male. Tomography, X-Ray Computed

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 18172635.001).
  • [ISSN] 0301-0449
  • [Journal-full-title] Pediatric radiology
  • [ISO-abbreviation] Pediatr Radiol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Contrast Media
  •  go-up   go-down


39. Okabayash S, Ohno C, Yasutomi Y: Acute megakaryocytic leukaemia (AMKL)-like disease in a cynomolgus monkey (Macaca fascicularis). J Comp Pathol; 2009 Feb-Apr;140(2-3):212-6

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Acute megakaryocytic leukaemia (AMKL)-like disease in a cynomolgus monkey (Macaca fascicularis).
  • Microscopically, numerous atypical cells resembling myeloid cells were observed in the bone marrow, and myelofibrosis was present.
  • A diagnosis of acute megakaryocytic leukaemia (AMKL)-like disease was made.
  • This would appear to be the first report of AMKL-like disease in non-human primates.
  • This monkey was infected with simian retrovirus type D and it is possible that this viral infection was associated with the development of neoplasia.
  • [MeSH-major] Leukemia, Megakaryoblastic, Acute / pathology. Leukemia, Megakaryoblastic, Acute / veterinary. Monkey Diseases / pathology

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19159898.001).
  • [ISSN] 1532-3129
  • [Journal-full-title] Journal of comparative pathology
  • [ISO-abbreviation] J. Comp. Pathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  •  go-up   go-down


40. Ariffin H, Garcia JC, Daud SS, Ibrahim K, Aizah N, Ong GB, Chong LA, Mohamad Z: GATA1 mutations in patients with down syndrome and acute megakaryoblastic leukaemia do not always confer a good prognosis. Pediatr Blood Cancer; 2009 Jul;53(1):108-11
MedlinePlus Health Information. consumer health - Down Syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] GATA1 mutations in patients with down syndrome and acute megakaryoblastic leukaemia do not always confer a good prognosis.
  • Children with Down syndrome and acute megakaryoblastic leukemia (DS-AMKL) have been shown to have increased sensitivity to cytarabine based chemotherapy.
  • The excellent prognosis in patients with DS-AMKL may be due to mutations in the GATA1 gene leading to reduced expression of the enzyme cytidine deaminase.
  • We report two cases of DS-AMKL with GATA1 mutations who had poor outcome.
  • We speculate that other factors can affect overall outcome in patients with DS-AMKL irrespective of the presence of GATA1 mutations.
  • [MeSH-major] Cytidine Deaminase / metabolism. Down Syndrome / genetics. GATA1 Transcription Factor / genetics. Leukemia, Megakaryoblastic, Acute / genetics. Mutation

  • Genetic Alliance. consumer health - Down Syndrome.
  • Genetic Alliance. consumer health - Good Syndrome.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Copyright] Copyright 2009 Wiley-Liss, Inc.
  • (PMID = 19260099.001).
  • [ISSN] 1545-5017
  • [Journal-full-title] Pediatric blood & cancer
  • [ISO-abbreviation] Pediatr Blood Cancer
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human; EC 3.5.4.5 / Cytidine Deaminase
  •  go-up   go-down


41. Savaşan S, Buck S, Raimondi SC, Becton DL, Weinstein H, Chang M, Ravindranath Y: CD36 (thrombospondin receptor) expression in childhood acute megakaryoblastic leukemia: in vitro drug sensitivity and outcome. Leuk Lymphoma; 2006 Oct;47(10):2076-83
Hazardous Substances Data Bank. DAUNORUBICIN .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] CD36 (thrombospondin receptor) expression in childhood acute megakaryoblastic leukemia: in vitro drug sensitivity and outcome.
  • The outcome for children with acute megakaryoblastic leukemia (AMKL) remains poor, except for cases associated with Down syndrome (DS).
  • This study compared immunophenotypic and drug sensitivity patterns of childhood AMKL cases with or without DS.
  • All DS-AMKL cases showed high expression of CD36 and were very sensitive to cytarabine and daunorubicin in vitro.
  • In children without DS, high expression of CD36 on AMKL blasts identified a sub-group with immunophenotypic and drug sensitivity patterns similar to that of DS AMKL.
  • Among non-DS AMKL patients, CD36-high cases had a superior outcome compared with CD36-negative cases.
  • CD36 expression in acute myeloid leukemia cases other than AMKL was not associated with increased in vitro drug sensitivity.
  • CD36 expression in AMKL may be an indicator of megakaryoblast maturation and chemotherapy sensitivity.
  • [MeSH-major] Antigens, CD36 / biosynthesis. Gene Expression Regulation, Neoplastic. Leukemia, Megakaryoblastic, Acute / complications. Leukemia, Megakaryoblastic, Acute / metabolism

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • COS Scholar Universe. author profiles.
  • Hazardous Substances Data Bank. CYTARABINE .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [CommentIn] Leuk Lymphoma. 2006 Oct;47(10):2004-5 [17071466.001]
  • (PMID = 17071479.001).
  • [ISSN] 1042-8194
  • [Journal-full-title] Leukemia & lymphoma
  • [ISO-abbreviation] Leuk. Lymphoma
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA-21765; United States / NCI NIH HHS / CA / U10 CA 30969
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Antigens, CD36; 0 / Biomarkers, Tumor; 04079A1RDZ / Cytarabine; ZS7284E0ZP / Daunorubicin
  •  go-up   go-down


42. Dopico Vázquez D, Gallegos Sancho MI, Alonso Curbera G, Carral Maseda A, Quindós Varela M, Antón Aparicio LM: Non-seminomatous germ-cell tumour associated with acute megakaryoblastic leukaemia. Clin Transl Oncol; 2007 May;9(5):329-31

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Non-seminomatous germ-cell tumour associated with acute megakaryoblastic leukaemia.
  • The diagnosis of the haematological condition is usually either synchronic or metachronic with that of the germ-cell tumour.
  • The case report we present is that of a young male with an initial diagnosis of both conditions.
  • It was possible to apply specific treatment, initially in the case of the leukaemia, and later in the case of the germ-cell tumour.
  • [MeSH-major] Leukemia, Megakaryoblastic, Acute. Mediastinal Neoplasms. Neoplasms, Germ Cell and Embryonal. Neoplasms, Multiple Primary

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 17525044.001).
  • [ISSN] 1699-048X
  • [Journal-full-title] Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico
  • [ISO-abbreviation] Clin Transl Oncol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Spain
  •  go-up   go-down


43. Kurekci AE, Atay AA, Okutan V, Yavuz ST, Ozcan O: Recombinant activated factor VII for severe gastrointestinal bleeding after chemotherapy in an infant with acute megakaryoblastic leukemia. Blood Coagul Fibrinolysis; 2005 Mar;16(2):145-7
MedlinePlus Health Information. consumer health - Gastrointestinal Bleeding.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Recombinant activated factor VII for severe gastrointestinal bleeding after chemotherapy in an infant with acute megakaryoblastic leukemia.
  • Herein, we describe a 16-month-old boy with acute megakaryoblastic leukemia and severe intractable gastrointestinal bleeding controlled by rFVIIa. rFVIIa should be considered as a novel treatment alternative in severe bleeding conditions including leukemias that may have hemostatic defects and platelet dysfunction.
  • [MeSH-major] Factor VII / administration & dosage. Gastrointestinal Hemorrhage / drug therapy. Leukemia, Megakaryoblastic, Acute. Recombinant Proteins / administration & dosage

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 15741803.001).
  • [ISSN] 0957-5235
  • [Journal-full-title] Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis
  • [ISO-abbreviation] Blood Coagul. Fibrinolysis
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Recombinant Proteins; 0 / recombinant FVIIa; 9001-25-6 / Factor VII; EC 3.4.21.21 / Factor VIIa
  •  go-up   go-down


44. Takita J, Motomura A, Koh K, Ida K, Taki T, Hayashi Y, Igarashi T: Acute megakaryoblastic leukemia in a child with the MLL-AF4 fusion gene. Eur J Haematol; 2009 Aug;83(2):149-53
Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Acute megakaryoblastic leukemia in a child with the MLL-AF4 fusion gene.
  • Mixed-lineage leukemia (MLL) rearrangements are commonly observed in childhood acute lymphoblastic and myeloid leukemia, as well as therapy-related leukemia.
  • However, the occurrence of MLL rearrangements in acute megakaryoblastic leukemia (AMKL) is very rare.
  • We report a pediatric case of AMKL with the MLL-AF4 fusion transcript.
  • MLL-AF4 is derived from t(4;11)(q21:q23) and occurs exclusively in B-cell lineage leukemia.
  • To our knowledge, MLL-AF4 as well as t(4;11)(q21:q23) has not been reported in adult and childhood AMKL.
  • Thus, our case provides new insight into the molecular mechanisms of MLL-AF4-associated leukemia.
  • [MeSH-major] Leukemia, Megakaryoblastic, Acute / genetics. Myeloid-Lymphoid Leukemia Protein / genetics. Oncogene Proteins, Fusion / genetics

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19459927.001).
  • [ISSN] 1600-0609
  • [Journal-full-title] European journal of haematology
  • [ISO-abbreviation] Eur. J. Haematol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / MLL-AF4 fusion protein, human; 0 / Oncogene Proteins, Fusion; 149025-06-9 / Myeloid-Lymphoid Leukemia Protein
  •  go-up   go-down


45. Crispino JD: GATA1 mutations in Down syndrome: implications for biology and diagnosis of children with transient myeloproliferative disorder and acute megakaryoblastic leukemia. Pediatr Blood Cancer; 2005 Jan;44(1):40-4
COS Scholar Universe. author profiles.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] GATA1 mutations in Down syndrome: implications for biology and diagnosis of children with transient myeloproliferative disorder and acute megakaryoblastic leukemia.
  • Although physicians have known for many decades that children with Down syndrome are predisposed to developing transient myeloproliferative disorder (TMD) and acute megakaryoblastic leukemia (AMKL), many questions regarding these disorders remain unresolved.
  • First, what is the relationship between TMD and AMKL?
  • Finally, what factors lead to the increased predisposition to these myeloid disorders?
  • In this review I will summarize important new insights into the biology of TMD and AMKL gained from the recent discovery that GATA1, a gene that encodes an essential hematopoietic transcription factor, is mutated in the leukemic blasts from nearly all patients with these malignancies.
  • In addition, I will discuss whether assaying for the presence of a GATA1 mutation can aid in the diagnosis of these and related megakaryoblastic leukemias.
  • Future research aimed at defining the activity of mutant GATA-1 protein and identifying interacting factors encoded by chromosome 21 will likely lead to an even greater understanding of this intriguing leukemia.

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • Genetic Alliance. consumer health - Down Syndrome.
  • MedlinePlus Health Information. consumer health - Down Syndrome.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Copyright] (c) 2004 Wiley-Liss, Inc.
  • (PMID = 15390312.001).
  • [ISSN] 1545-5009
  • [Journal-full-title] Pediatric blood & cancer
  • [ISO-abbreviation] Pediatr Blood Cancer
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA101774-03; United States / NCI NIH HHS / CA / R01 CA101774; United States / NCI NIH HHS / CA / R01 CA101774-03
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA-Binding Proteins; 0 / Erythroid-Specific DNA-Binding Factors; 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human; 0 / Transcription Factors
  • [Number-of-references] 30
  •  go-up   go-down


46. Gu TL, Mercher T, Tyner JW, Goss VL, Walters DK, Cornejo MG, Reeves C, Popova L, Lee K, Heinrich MC, Rush J, Daibata M, Miyoshi I, Gilliland DG, Druker BJ, Polakiewicz RD: A novel fusion of RBM6 to CSF1R in acute megakaryoblastic leukemia. Blood; 2007 Jul 1;110(1):323-33
The Lens. Cited by Patents in .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A novel fusion of RBM6 to CSF1R in acute megakaryoblastic leukemia.
  • Activated tyrosine kinases have been frequently implicated in the pathogenesis of cancer, including acute myeloid leukemia (AML), and are validated targets for therapeutic intervention with small-molecule kinase inhibitors.
  • This method revealed the presence of an activated colony-stimulating factor 1 receptor (CSF1R) kinase in the acute megakaryoblastic leukemia (AMKL) cell line MKPL-1.
  • DNA sequence analysis of cDNA generated by 5'RACE from CSF1R coding sequences identified a novel fusion of the RNA binding motif 6 (RBM6) gene to CSF1R gene generated presumably by a t(3;5)(p21;q33) translocation.
  • Expression of the RBM6-CSF1R fusion protein conferred interleukin-3 (IL-3)-independent growth in BaF3 cells, and induces a myeloid proliferative disease (MPD) with features of megakaryoblastic leukemia in a murine transplant model.

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • COS Scholar Universe. author profiles.
  • PhosphoSitePlus. gene/protein/disease-specific - PhosphoSitePlus® - comprehensive post-translational modification resource .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Proc Natl Acad Sci U S A. 2001 May 8;98(10):5776-9 [11344311.001]
  • [Cites] Nat Biotechnol. 2005 Jan;23(1):94-101 [15592455.001]
  • [Cites] Nat Genet. 2001 Jul;28(3):220-1 [11431691.001]
  • [Cites] Genes Chromosomes Cancer. 2001 Nov;32(3):285-93 [11579469.001]
  • [Cites] Leukemia. 2001 Dec;15(12):1923-31 [11753614.001]
  • [Cites] Cancer Treat Res. 2002;107:285-92 [11775455.001]
  • [Cites] Blood. 2002 Jul 15;100(2):618-26 [12091356.001]
  • [Cites] Blood. 2005 Apr 15;105(8):3127-32 [15637141.001]
  • [Cites] Leukemia. 2005 Sep;19(9):1536-42 [16015387.001]
  • [Cites] J Clin Oncol. 2005 Sep 10;23(26):6285-95 [16155011.001]
  • [Cites] Proc Natl Acad Sci U S A. 2005 Nov 1;102(44):16078-83 [16249345.001]
  • [Cites] Oncogene. 2006 Jan 5;25(1):147-51 [16170366.001]
  • [Cites] Blood. 2006 Feb 1;107(3):907-15 [16204311.001]
  • [Cites] Blood. 2006 Jun 1;107(11):4274-81 [16478879.001]
  • [Cites] Proc Natl Acad Sci U S A. 2006 May 23;103(21):8078-83 [16690743.001]
  • [Cites] Cancer Cell. 2006 Jul;10(1):65-75 [16843266.001]
  • [Cites] Leuk Res. 2006 Sep;30(9):1097-104 [16464493.001]
  • [Cites] Leukemia. 2006 Aug;20(8):1414-21 [16761019.001]
  • [Cites] EMBO J. 2006 Jul 26;25(14):3264-74 [16858405.001]
  • [Cites] Blood. 2006 Oct 15;108(8):2770-9 [16804112.001]
  • [Cites] PLoS Med. 2006 Jul;3(7):e270 [16834459.001]
  • [Cites] Blood. 2006 Dec 15;108(13):4202-4 [16946300.001]
  • [Cites] Science. 2002 Dec 6;298(5600):1912-34 [12471243.001]
  • [Cites] N Engl J Med. 2003 Mar 27;348(13):1201-14 [12660384.001]
  • [Cites] Clin Cancer Res. 2003 Nov 15;9(15):5465-76 [14654525.001]
  • [Cites] Nat Rev Cancer. 2004 Mar;4(3):177-83 [14993899.001]
  • [Cites] J Cell Biol. 1981 Dec;91(3 Pt 1):848-53 [6276411.001]
  • [Cites] Blood. 1983 Jul;62(1):1-13 [6407542.001]
  • [Cites] J Clin Invest. 1988 Apr;81(4):1030-5 [2832442.001]
  • [Cites] Blood. 1989 Feb 15;73(3):827-37 [2465043.001]
  • [Cites] Proc Natl Acad Sci U S A. 1990 Feb;87(4):1377-80 [2406720.001]
  • [Cites] Leukemia. 1990 Jul;4(7):486-9 [2142747.001]
  • [Cites] Leukemia. 1992 Jun;6(6):588-94 [1602796.001]
  • [Cites] Leukemia. 1993 Jul;7(7):978-85 [8321048.001]
  • [Cites] J Biol Chem. 1994 Jun 17;269(24):16589-96 [8206977.001]
  • [Cites] Genes Dev. 1994 Jul 15;8(14):1664-77 [7958847.001]
  • [Cites] Cancer Res. 1998 Mar 1;58(5):1034-41 [9500467.001]
  • [Cites] J Biol Chem. 1998 May 15;273(20):11987-90 [9575136.001]
  • [Cites] Br J Haematol. 1998 Jun;101(3):521-8 [9633897.001]
  • [Cites] EMBO J. 1998 Sep 15;17(18):5321-33 [9736611.001]
  • [Cites] Oncogene. 1999 Apr 22;18(16):2589-97 [10353602.001]
  • [Cites] Eur J Hum Genet. 1999 May-Jun;7(4):478-86 [10352938.001]
  • [Cites] Nature. 2001 May 17;411(6835):355-65 [11357143.001]
  • (PMID = 17360941.001).
  • [ISSN] 0006-4971
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / P01 CA066996; United States / NCI NIH HHS / CA / R01 CA66996
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Oncogene Proteins, Fusion; 0 / RBM6 protein, human; 0 / RNA-Binding Proteins; EC 2.7.10.1 / Protein-Tyrosine Kinases; EC 2.7.10.1 / Receptor, Macrophage Colony-Stimulating Factor
  • [Other-IDs] NLM/ PMC1896120
  •  go-up   go-down


47. Suter SE, Vernau W, Fry MM, London CA: CD34+, CD41+ acute megakaryoblastic leukemia in a dog. Vet Clin Pathol; 2007 Sep;36(3):288-92
COS Scholar Universe. author profiles.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] CD34+, CD41+ acute megakaryoblastic leukemia in a dog.
  • Based on these results and the morphology of the neoplastic cells, a diagnosis of acute megakaryoblastic leukemia (AMegL) was made.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 17806080.001).
  • [ISSN] 0275-6382
  • [Journal-full-title] Veterinary clinical pathology
  • [ISO-abbreviation] Vet Clin Pathol
  • [Language] ENG
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antibodies; 0 / Antigens, CD34; 0 / Platelet Membrane Glycoprotein IIb
  •  go-up   go-down


48. Xu G, Kanezaki R, Toki T, Watanabe S, Takahashi Y, Terui K, Kitabayashi I, Ito E: Physical association of the patient-specific GATA1 mutants with RUNX1 in acute megakaryoblastic leukemia accompanying Down syndrome. Leukemia; 2006 Jun;20(6):1002-8
MedlinePlus Health Information. consumer health - Down Syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Physical association of the patient-specific GATA1 mutants with RUNX1 in acute megakaryoblastic leukemia accompanying Down syndrome.
  • Mutations of the GATA1 gene on chromosome X have been found in almost all cases of transient myeloproliferative disorder and acute megakaryoblastic leukemia (AMKL) accompanying Down syndrome (DS).
  • It has been suggested that loss of the N-terminal portion of GATA1 might interfere with physiological interactions with the critical megakaryocytic transcription factor RUNX1, and this would imply that GATA1s is not able to interact properly with RUNX1.
  • All of the patient-specific GATA1 mutants interacted efficiently with RUNX1 and retained their ability to act synergistically with RUNX1 on the megakaryocytic GP1balpha promoter, whereas the levels of transcriptional activities were diverse among the mutants.
  • Thus, our data indicate that physical interaction and synergy between GATA1 and RUNX1 are retained in DS-AMKL, although it is still possible that increased RUNX1 activity plays a role in the development of leukemia in DS.
  • [MeSH-major] Core Binding Factor Alpha 2 Subunit / genetics. Down Syndrome / complications. Down Syndrome / genetics. GATA1 Transcription Factor / genetics. Leukemia, Megakaryoblastic, Acute / complications. Leukemia, Megakaryoblastic, Acute / genetics

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • Genetic Alliance. consumer health - Down Syndrome.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 16628190.001).
  • [ISSN] 0887-6924
  • [Journal-full-title] Leukemia
  • [ISO-abbreviation] Leukemia
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Core Binding Factor Alpha 2 Subunit; 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human; 0 / Platelet Glycoprotein GPIb-IX Complex; 0 / RUNX1 protein, human
  •  go-up   go-down


49. Ameri M, Wilkerson MJ, Stockham SL, Almes KM, Patton KM, Jackson T: Acute megakaryoblastic leukemia in a German Shepherd dog. Vet Clin Pathol; 2010 Mar;39(1):39-45
COS Scholar Universe. author profiles.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Acute megakaryoblastic leukemia in a German Shepherd dog.
  • Based on microscopic and immunophenotypic findings, a diagnosis of acute megakaryoblastic leukemia (AMegL) was made.
  • To our knowledge, this is the first report of AMegL in a domestic animal in which immunophenotyping by flow cytometry and a panel of antibodies against CD41/61, CD61, and CD62P were used to support the diagnosis.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19793230.001).
  • [ISSN] 1939-165X
  • [Journal-full-title] Veterinary clinical pathology
  • [ISO-abbreviation] Vet Clin Pathol
  • [Language] ENG
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  •  go-up   go-down


50. Comazzi S, Gelain ME, Bonfanti U, Roccabianca P: Acute megakaryoblastic leukemia in dogs: a report of three cases and review of the literature. J Am Anim Hosp Assoc; 2010 Sep-Oct;46(5):327-35

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Acute megakaryoblastic leukemia in dogs: a report of three cases and review of the literature.
  • A final diagnosis of acute megakaryoblastic leukemia (AMegL) was made based on morphology and positivity to the megakaryocyte-derived cell-specific markers von Willebrand factor and CD61.
  • In case nos. 1 and 2, no treatment was initiated, and the dogs died on days 4 and 3, respectively.
  • [MeSH-major] Dog Diseases / diagnosis. Leukemia, Megakaryoblastic, Acute / veterinary

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 20810553.001).
  • [ISSN] 1547-3317
  • [Journal-full-title] Journal of the American Animal Hospital Association
  • [ISO-abbreviation] J Am Anim Hosp Assoc
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Integrin beta3; 0 / von Willebrand Factor
  •  go-up   go-down


51. Xu G, Kato K, Toki T, Takahashi Y, Terui K, Ito E: Development of acute megakaryoblastic leukemia from a minor clone in a Down syndrome patient with clinically overt transient myeloproliferative disorder. J Pediatr Hematol Oncol; 2006 Oct;28(10):696-8
MedlinePlus Health Information. consumer health - Down Syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Development of acute megakaryoblastic leukemia from a minor clone in a Down syndrome patient with clinically overt transient myeloproliferative disorder.
  • A Down syndrome male showed leukocytosis from birth and was diagnosed as transient myeloproliferative disorder (TMD).
  • Eight months later, his condition had progressed to myelodysplastic syndrome after spontaneous resolution, and it then evolved to acute megakaryoblastic leukemia (AMKL) at the age of 20 months.
  • Sequencing analysis showed that the predominant TMD and AMKL clones had different GATA1 mutations, although a minor TMD clone identical to the AMKL clone was present at birth.
  • These observations suggest that a minor clone rather than the predominant clone at the time of TMD may give rise to AMKL later on.
  • [MeSH-major] Down Syndrome / genetics. GATA1 Transcription Factor / genetics. Leukemia, Megakaryoblastic, Acute / genetics. Myeloproliferative Disorders / genetics
  • [MeSH-minor] Cell Lineage. Clone Cells. DNA Mutational Analysis. Disease Progression. Humans. Immunophenotyping. Infant. Infant, Newborn. Leukocytosis / diagnosis. Leukocytosis / etiology. Male. Mutation. Risk Factors

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • Genetic Alliance. consumer health - Down Syndrome.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 17023834.001).
  • [ISSN] 1077-4114
  • [Journal-full-title] Journal of pediatric hematology/oncology
  • [ISO-abbreviation] J. Pediatr. Hematol. Oncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / GATA1 Transcription Factor
  •  go-up   go-down


52. Park HM, Doster AR, Tashbaeva RE, Lee YM, Lyoo YS, Lee SJ, Kim HJ, Sur JH: Clinical, histopathological and immunohistochemical findings in a case of megakaryoblastic leukemia in a dog. J Vet Diagn Invest; 2006 May;18(3):287-91

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Clinical, histopathological and immunohistochemical findings in a case of megakaryoblastic leukemia in a dog.
  • The clinical, hematological, and histopathologic features of megakaryoblastic leukemia (M7) were investigated in a 10-year-old female Shih-Tzu dog.
  • Megakaryoblastic leukemia was diagnosed using anti-human platelet glycoprotein (GP IIIa) and anti-human von Willebrand factor (vWF) antibodies.
  • Antibodies against platelet GP IIIa were demonstrated to be the most useful for the diagnosis of megakaryoblastic leukemia of paraffin-embedded canine tissues.
  • Hematological and histological data coupled with immunohistochemical reactivity for platelet GP IIIa, vWF, and CD79a antigen in blast cells confirmed a diagnosis of M7 megakaryoblastic leukemia.
  • [MeSH-major] Dog Diseases / pathology. Leukemia, Megakaryoblastic, Acute / veterinary

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 16789720.001).
  • [ISSN] 1040-6387
  • [Journal-full-title] Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc
  • [ISO-abbreviation] J. Vet. Diagn. Invest.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antigens, CD79; 0 / Integrin beta3; 0 / von Willebrand Factor
  •  go-up   go-down


53. Lo KC, Chalker J, Strehl S, Neat M, Smith O, Dastugue N, Kearney L, Izraeli S, Kempski H, Cowell JK: Array comparative genome hybridization analysis of acute lymphoblastic leukaemia and acute megakaryoblastic leukaemia in patients with Down syndrome. Br J Haematol; 2008 Sep;142(6):934-45
COS Scholar Universe. author profiles.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Array comparative genome hybridization analysis of acute lymphoblastic leukaemia and acute megakaryoblastic leukaemia in patients with Down syndrome.
  • Twenty-five cases of B-cell precursor acute lymphoblastic leukaemia (ALL) from Down syndrome (DS) patients were analyzed using array comparative genomic hybridization (aCGH) and compared with two other subgroups of non-DS patients with ALL; five cases with high-hyperdiploidy (HH) and nine cases with ETV6-RUNX1 positive clones.
  • Seven cases of DS-acute megakaryoblastic leukaemia (AMKL) were also included, DS-ALL cases showed relatively stable karyotypes with cryptic losses and gains that most frequently involved chromosomes X, 1, 2, 9, 11, 16, and 17.
  • This overall analysis supports the suggestion that, although constitutional trisomy 21 predisposes to ALL/AMKL, the cytogenetic changes associated with DS-ALL in particular, are most similar to those found in non-DS ETV6-RUNX1 positive ALL.
  • [MeSH-major] Chromosome Aberrations. Down Syndrome / genetics. Leukemia, Megakaryoblastic, Acute / genetics. Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics

  • Genetic Alliance. consumer health - Down Syndrome.
  • MedlinePlus Health Information. consumer health - Down Syndrome.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [CommentIn] Br J Haematol. 2009 Jun;146(1):113-5 [19344409.001]
  • (PMID = 18557744.001).
  • [ISSN] 1365-2141
  • [Journal-full-title] British journal of haematology
  • [ISO-abbreviation] Br. J. Haematol.
  • [Language] eng
  • [Publication-type] Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Core Binding Factor Alpha 2 Subunit; 0 / Oncogene Proteins, Fusion; 0 / TEL-AML1 fusion protein
  •  go-up   go-down


54. Ledieu D, Palazzi X, Marchal T, Fournel-Fleury C: Acute megakaryoblastic leukemia with erythrophagocytosis and thrombosis in a dog. Vet Clin Pathol; 2005;34(1):52-6
MedlinePlus Health Information. consumer health - Blood Clots.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Acute megakaryoblastic leukemia with erythrophagocytosis and thrombosis in a dog.
  • A 7-year-old, intact male Dachshund was presented to the Lyon veterinary school for lethargy and anorexia of several weeks duration.
  • Blood smear evaluation and cytologic examination of lymph node and bone marrow aspirate specimens revealed a large population of poorly differentiated blast cells with morphologic features suggesting megakaryocytic lineage.
  • This case confirms the usefulness of immunochemistry, including for factor XIII, in the diagnosis of megakaryoblastic leukemia, and demonstrates the unique features of tumor cell erythrophagocytosis and marked fibrinous thrombosis, which have not been reported previously in dogs.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 15732019.001).
  • [ISSN] 0275-6382
  • [Journal-full-title] Veterinary clinical pathology
  • [ISO-abbreviation] Vet Clin Pathol
  • [Language] ENG
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  •  go-up   go-down


55. Hao X, Shin MS, Zhou JX, Lee CH, Qi CF, Naghashfar Z, Hartley JW, Fredrickson TN, Ward JM, Morse HC 3rd: Histologic and molecular characterizations of megakaryocytic leukemia in mice. Leuk Res; 2006 Apr;30(4):397-406
Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Histologic and molecular characterizations of megakaryocytic leukemia in mice.
  • Six cases of megakaryocytic leukemia (MKL) were identified and analyzed for morphology and molecular features.
  • MKL were composed of megakaryocyte lineage cells ranging from immature to quite mature cells.
  • VWF, GATA1 and RUNX1 were strongly expressed in megakaryocytes in both normal spleen and MKL as analyzed by immunohistochemistry (IHC).
  • Altered expression of Meis1, Pbx1 and Psen2 and Lef1 in MKL detected with oligonucleotide microarrays was confirmed by qPCR and IHC.
  • This is the first report of spontaneous MKL in mice, defining VWF as a biomarker for diagnosis and suggesting possible involvement of a series of genes in disease pathogenesis.
  • [MeSH-major] Leukemia, Megakaryoblastic, Acute / genetics. Leukemia, Megakaryoblastic, Acute / pathology

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 16219351.001).
  • [ISSN] 0145-2126
  • [Journal-full-title] Leukemia research
  • [ISO-abbreviation] Leuk. Res.
  • [Language] eng
  • [Grant] United States / Intramural NIH HHS / /
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Core Binding Factor Alpha 2 Subunit; 0 / DNA Primers; 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human; 0 / Integrin beta3; 0 / Ki-67 Antigen; 0 / RUNX1 protein, human; 0 / von Willebrand Factor
  •  go-up   go-down


56. Alioglu B, Tuncay IC, Ozyurek E, Avci Z, Ozbek N: Bone fracture: an unusual presentation of acute megakaryoblastic leukemia. Pediatr Hematol Oncol; 2009 Jan;26(1):62-9
MedlinePlus Health Information. consumer health - Fractures.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Bone fracture: an unusual presentation of acute megakaryoblastic leukemia.
  • Some clinical manifestations of acute leukemia in children can mimic orthopedic conditions, and t is variable presentation often makes diagnosis difficult.
  • Bone changes in leukemia are well documented, but there are only a few accounts of children with acute leukemia who present with bone fractures.
  • This report describes a case of this rare combination in a very young boy who presented with fractures of both proximal humerus and left proximal femur and massive periosteal reactions of both humerus and femur and also cystic lesions of proximal femur and iliac bone accompanying aggressive acute megakaryoblastic leukemia.
  • [MeSH-major] Fractures, Bone / etiology. Leukemia, Megakaryoblastic, Acute / complications
  • [MeSH-minor] Child, Preschool. Diagnosis, Differential. Femoral Fractures. Humans. Humeral Fractures. Male. Periosteum

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19206010.001).
  • [ISSN] 1521-0669
  • [Journal-full-title] Pediatric hematology and oncology
  • [ISO-abbreviation] Pediatr Hematol Oncol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  •  go-up   go-down


57. Kobayashi K, Usami I, Kubota M, Nishio T, Kakazu N: Chromosome 7 abnormalities in acute megakaryoblastic leukemia associated with Down syndrome. Cancer Genet Cytogenet; 2005 Apr 15;158(2):184-7
MedlinePlus Health Information. consumer health - Down Syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Chromosome 7 abnormalities in acute megakaryoblastic leukemia associated with Down syndrome.
  • A 2-year-old girl with Down syndrome (DS) developed acute megakaryoblastic leukemia (AMKL) following a transient myeloproliferative disorder (TMD).
  • We reviewed 10 published cases of Down syndrome-related AMKL (DS-AMKL) showing chromosome 7 abnormalities and found that these changes do not carry the same prognostic weight as for non-DS children.
  • For DS-AMKL, therefore, other prognostic factors besides clonal cytogenetic changes need to be identified for planning optimal therapy.
  • [MeSH-major] Chromosome Aberrations. Chromosome Disorders. Chromosomes, Human, Pair 7. Down Syndrome / genetics. Leukemia, Megakaryoblastic, Acute / genetics
  • [MeSH-minor] Child, Preschool. Disease Progression. Female. Humans. Ring Chromosomes. Spectral Karyotyping. Trisomy

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • Genetic Alliance. consumer health - Down Syndrome.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 15796967.001).
  • [ISSN] 0165-4608
  • [Journal-full-title] Cancer genetics and cytogenetics
  • [ISO-abbreviation] Cancer Genet. Cytogenet.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 10
  •  go-up   go-down


58. Pine SR, Guo Q, Yin C, Jayabose S, Levendoglu-Tugal O, Ozkaynak MF, Sandoval C: GATA1 as a new target to detect minimal residual disease in both transient leukemia and megakaryoblastic leukemia of Down syndrome. Leuk Res; 2005 Nov;29(11):1353-6
MedlinePlus Health Information. consumer health - Leukemia.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] GATA1 as a new target to detect minimal residual disease in both transient leukemia and megakaryoblastic leukemia of Down syndrome.
  • Acquired mutations in exon 2 of the GATA1 gene are detected in most Down syndrome (DS) patients with transient leukemia (TL) and acute megakaryoblastic leukemia (AMKL).
  • We sought to determine if GATA1 mutations can be utilized as markers for minimal residual disease (MRD).
  • We show that molecular monitoring of GATA1 mutations is possible in Down syndrome patients with TL and AMKL, and GATA1 could be a stable marker for MRD monitoring.
  • [MeSH-major] Down Syndrome / genetics. GATA1 Transcription Factor / genetics. Leukemia / diagnosis. Leukemia / genetics. Leukemia, Megakaryoblastic, Acute / diagnosis. Leukemia, Megakaryoblastic, Acute / genetics

  • Genetic Alliance. consumer health - Down Syndrome.
  • MedlinePlus Health Information. consumer health - Down Syndrome.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [CommentIn] Leuk Res. 2005 Nov;29(11):1239-40 [15925405.001]
  • (PMID = 15916804.001).
  • [ISSN] 0145-2126
  • [Journal-full-title] Leukemia research
  • [ISO-abbreviation] Leuk. Res.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / GATA1 Transcription Factor
  •  go-up   go-down


59. Taketani T, Taki T, Sako M, Ishii T, Yamaguchi S, Hayashi Y: MNX1-ETV6 fusion gene in an acute megakaryoblastic leukemia and expression of the MNX1 gene in leukemia and normal B cell lines. Cancer Genet Cytogenet; 2008 Oct 15;186(2):115-9
MedlinePlus Health Information. consumer health - Leukemia.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] MNX1-ETV6 fusion gene in an acute megakaryoblastic leukemia and expression of the MNX1 gene in leukemia and normal B cell lines.
  • Patients with infant acute myeloid leukemia (AML) who carry a t(7;12)(q36;p13) translocation have been reported to have a poor clinical outcome.
  • A 23-month-old girl with acute megakaryoblastic leukemia (AMKL) exhibited chromosome abnormalities, including add(7)(q22), and del(12)(p12p13).
  • This represents a novel case of an AMKL patient with MNX1-ETV6 fusion transcripts who had a good prognosis.
  • [MeSH-major] B-Lymphocytes / metabolism. Gene Fusion. Homeodomain Proteins / genetics. Leukemia / genetics. Leukemia, Megakaryoblastic, Acute / genetics. Proto-Oncogene Proteins c-ets / genetics. Repressor Proteins / genetics. Transcription Factors / genetics

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 18940475.001).
  • [ISSN] 1873-4456
  • [Journal-full-title] Cancer genetics and cytogenetics
  • [ISO-abbreviation] Cancer Genet. Cytogenet.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / ETS translocation variant 6 protein; 0 / Homeodomain Proteins; 0 / MNX1 protein, human; 0 / Proto-Oncogene Proteins c-ets; 0 / Repressor Proteins; 0 / Transcription Factors
  •  go-up   go-down


60. Ahmad F, Dalvi R, Das BR, Mandava S: Novel t(8;17)(q23;q24.2) and t(9;22)(p24.1;q12.2) in acute megakaryoblastic leukemia AML-M7 subtype in an adult patient. Cancer Genet Cytogenet; 2009 Sep;193(2):112-5
Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Novel t(8;17)(q23;q24.2) and t(9;22)(p24.1;q12.2) in acute megakaryoblastic leukemia AML-M7 subtype in an adult patient.
  • The strong association of diagnostic karyotype with clinical outcome has made cytogenetics one of the most valuable diagnostic and prognostic tools for acute myeloid leukemia (AML).
  • The subtype M7 is a rare disease of the megakaryoblastic lineage and is mostly associated with complex abnormal karyotype.
  • We describe the clinical, morphologic, immunophenotypic, and cytogenetic findings in the case of a 39-year-old man with acute megakaryoblastic leukemia (AML-M7).
  • Cytogenetic analysis revealed two translocations, t(8;17)(q23;q24.2) and t(9;22)(p24.1;q12.2), at presentation; to our knowledge, this combination is a novel finding for acute megakaryoblastic leukemia.
  • [MeSH-major] Chromosomes, Human. Leukemia, Megakaryoblastic, Acute / genetics. Translocation, Genetic

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19665073.001).
  • [ISSN] 1873-4456
  • [Journal-full-title] Cancer genetics and cytogenetics
  • [ISO-abbreviation] Cancer Genet. Cytogenet.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  •  go-up   go-down


61. Tosi S, Ballabio E, Teigler-Schlegel A, Boultwood J, Bruch J, Harbott J: Characterization of 6q abnormalities in childhood acute myeloid leukemia and identification of a novel t(6;11)(q24.1;p15.5) resulting in a NUP98-C6orf80 fusion in a case of acute megakaryoblastic leukemia. Genes Chromosomes Cancer; 2005 Nov;44(3):225-32
Genetic Alliance. consumer health - Leukemia, Myeloid.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Characterization of 6q abnormalities in childhood acute myeloid leukemia and identification of a novel t(6;11)(q24.1;p15.5) resulting in a NUP98-C6orf80 fusion in a case of acute megakaryoblastic leukemia.
  • Chromosome abnormalities of 6q are not frequently observed in myeloid disorders.
  • In this article, we report the incidence of these chromosome changes in childhood myeloid leukemia as 2%-4% based on the cytogenetic database of a single institution.
  • We applied fluorescence in situ hybridization (FISH) to characterize precisely the types of 6q abnormalities in seven patients (six with acute myeloid leukemia and one with myelodysplastic syndrome).
  • Among these, we identified a novel translocation, t(6;11)(q24.1;p15.5), in a patient with acute megakaryoblastic leukemia.
  • Further studies will aim to fully characterize C6orf80 and will elucidate the role of this new NUP98 fusion in myeloid leukemia.
  • [MeSH-major] Chromosomes, Human, Pair 11 / genetics. Chromosomes, Human, Pair 6 / genetics. Leukemia, Myeloid / genetics. Nuclear Pore Complex Proteins / genetics. Oncogene Proteins, Fusion / genetics. Translocation, Genetic
  • [MeSH-minor] Acute Disease. Adolescent. Amino Acid Sequence. Base Sequence. Child. Child, Preschool. Chromosome Breakage. Chromosomes, Artificial, Bacterial. Cytogenetic Analysis. DNA, Neoplasm / analysis. Humans. In Situ Hybridization, Fluorescence. Infant. Molecular Sequence Data. RNA, Neoplasm / analysis. Reverse Transcriptase Polymerase Chain Reaction

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • Genetic Alliance. consumer health - Acute Myeloid Leukemia, Childhood.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Copyright] (c) 2005 Wiley-Liss, Inc.
  • (PMID = 16028218.001).
  • [ISSN] 1045-2257
  • [Journal-full-title] Genes, chromosomes & cancer
  • [ISO-abbreviation] Genes Chromosomes Cancer
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA, Neoplasm; 0 / Nuclear Pore Complex Proteins; 0 / Oncogene Proteins, Fusion; 0 / RNA, Neoplasm; 0 / nuclear pore complex protein 98
  •  go-up   go-down


62. Lei Q, Liu Y, Tang SQ: [Childhood acute megakaryoblastic leukemia]. Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2007 Jun;15(3):528-32
Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Childhood acute megakaryoblastic leukemia].
  • The aim of this study was to investigate the clinical, pathological and biological features of acute megakaryoblastic leukemia in childhood.
  • The morphology of cells was observed by means of bone marrow smear; the immunophenotype was detected by flow cytometry and immunohistochemistry assay.
  • At the time of diagnosis, the bone marrow had more than 30% megakaryoblasts in nucleated cells.
  • According to all above mentioned results, this case was diagnosed as acute megakaryoblastic leukemia.
  • In conclusion, childhood acute megakaryoblastic leukemia is a rare and easily misdiagnosed disease with poor prognosis.
  • Flow cytometry analysis and immunohistochemistry assay of bone marrow can help in detecting this leukemia subtype and evaluating its prognosis.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 17605859.001).
  • [ISSN] 1009-2137
  • [Journal-full-title] Zhongguo shi yan xue ye xue za zhi
  • [ISO-abbreviation] Zhongguo Shi Yan Xue Ye Xue Za Zhi
  • [Language] CHI
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] China
  • [Chemical-registry-number] 0 / Platelet Glycoprotein GPIb-IX Complex
  •  go-up   go-down


63. Malinge S, Ragu C, Della-Valle V, Pisani D, Constantinescu SN, Perez C, Villeval JL, Reinhardt D, Landman-Parker J, Michaux L, Dastugue N, Baruchel A, Vainchenker W, Bourquin JP, Penard-Lacronique V, Bernard OA: Activating mutations in human acute megakaryoblastic leukemia. Blood; 2008 Nov 15;112(10):4220-6
The Lens. Cited by Patents in .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Activating mutations in human acute megakaryoblastic leukemia.
  • Oncogenic activation of tyrosine kinase signaling pathway is recurrent in human leukemia.
  • To gain insight into the oncogenic process leading to acute megakaryoblastic leukemia (AMKL), we performed sequence analyses of a subset of oncogenes known to be activated in human myeloid and myeloproliferative disorders.
  • In a series of human AMKL samples from both Down syndrome and non-Down syndrome patients, mutations were identified within KIT, FLT3, JAK2, JAK3, and MPL genes, with a higher frequency in DS than in non-DS patients.
  • Finally, we report a novel constitutively active MPL mutant, MPLT487A, observed in a non-Down syndrome childhood AMKL that induces a myeloproliferative disease in mouse bone marrow transplantation assay.
  • [MeSH-major] Down Syndrome / genetics. Leukemia, Megakaryoblastic, Acute / genetics. Mutation. Neoplasm Proteins / genetics

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • MedlinePlus Health Information. consumer health - Down Syndrome.
  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 18755984.001).
  • [ISSN] 1528-0020
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Neoplasm Proteins
  •  go-up   go-down


64. Nakagawa K, Kuzumaki N: Transcriptional activity of megakaryoblastic leukemia 1 (MKL1) is repressed by SUMO modification. Genes Cells; 2005 Aug;10(8):835-50
NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Transcriptional activity of megakaryoblastic leukemia 1 (MKL1) is repressed by SUMO modification.
  • Megakaryoblastic leukemia 1 (MKL1) was originally identified as a gene translocated in megakaryoblastic leukemia.
  • [MeSH-major] DNA-Binding Proteins / metabolism. Leukemia, Megakaryoblastic, Acute / metabolism. SUMO-1 Protein / metabolism. Transcription, Genetic

  • Hazardous Substances Data Bank. CYCLOHEXIMIDE .
  • KOMP Repository. gene/protein/disease-specific - KOMP Repository (subscription/membership/fee required).
  • Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .
  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 16098147.001).
  • [ISSN] 1356-9597
  • [Journal-full-title] Genes to cells : devoted to molecular & cellular mechanisms
  • [ISO-abbreviation] Genes Cells
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / DNA-Binding Proteins; 0 / Oncogene Proteins, Fusion; 0 / SUMO-1 Protein; 0 / Serum Response Factor; 98600C0908 / Cycloheximide; EC 3.6.5.2 / rhoA GTP-Binding Protein; EC 6.3.2.19 / Ubiquitin-Conjugating Enzymes; EC 6.3.2.19 / ubiquitin-conjugating enzyme UBC9
  •  go-up   go-down


65. Bourquin JP, Subramanian A, Langebrake C, Reinhardt D, Bernard O, Ballerini P, Baruchel A, Cavé H, Dastugue N, Hasle H, Kaspers GL, Lessard M, Michaux L, Vyas P, van Wering E, Zwaan CM, Golub TR, Orkin SH: Identification of distinct molecular phenotypes in acute megakaryoblastic leukemia by gene expression profiling. Proc Natl Acad Sci U S A; 2006 Feb 28;103(9):3339-44
The Lens. Cited by Patents in .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Identification of distinct molecular phenotypes in acute megakaryoblastic leukemia by gene expression profiling.
  • Individuals with Down syndrome (DS) are predisposed to develop acute megakaryoblastic leukemia (AMKL), characterized by expression of truncated GATA1 transcription factor protein (GATA1s) due to somatic mutation.
  • The treatment outcome for DS-AMKL is more favorable than for AMKL in non-DS patients.
  • To gain insight into gene expression differences in AMKL, we compared 24 DS and 39 non-DS AMKL samples.
  • We found that non-DS-AMKL samples cluster in two groups, characterized by differences in expression of HOX/TALE family members.
  • Both of these groups are distinct from DS-AMKL, independent of chromosome 21 gene expression.
  • Genes repressed after GATA1 induction in the murine system, most notably GATA-2, MYC, and KIT, show increased expression in DS-AMKL, suggesting that GATA1s fail to repress this class of genes.
  • Only a subset of genes that are up-regulated upon GATA1 induction in the murine system show increased expression in DS-AMKL, including GATA1 and BACH1, a probable negative regulator of megakaryocytic differentiation located on chromosome 21.
  • Surprisingly, expression of the chromosome 21 gene RUNX1, a known regulator of megakaryopoiesis, was not elevated in DS-AMKL.
  • Our results identify relevant signatures for distinct AMKL entities and provide insight into gene expression changes associated with these related leukemias.
  • [MeSH-major] Gene Expression Profiling. Leukemia, Megakaryoblastic, Acute / genetics

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • COS Scholar Universe. author profiles.
  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Mol Cell Biol. 2003 Jul;23(14):5031-42 [12832487.001]
  • [Cites] Proc Natl Acad Sci U S A. 2005 Oct 25;102(43):15545-50 [16199517.001]
  • [Cites] Blood. 2004 Jan 15;103(2):399-406 [14512321.001]
  • [Cites] Proc Natl Acad Sci U S A. 2004 Jan 13;101(2):476-81 [14695898.001]
  • [Cites] Nat Med. 2004 Mar;10(3):299-304 [14966519.001]
  • [Cites] Proc Natl Acad Sci U S A. 2001 May 8;98(10):5776-9 [11344311.001]
  • [Cites] Blood. 2001 Jun 15;97(12):3727-32 [11389009.001]
  • [Cites] Nat Genet. 2001 Jul;28(3):220-1 [11431691.001]
  • [Cites] Leukemia. 2002 Feb;16(2):186-95 [11840284.001]
  • [Cites] Blood. 2002 Jul 15;100(2):618-26 [12091356.001]
  • [Cites] Nat Rev Cancer. 2002 Jul;2(7):502-13 [12094236.001]
  • [Cites] EMBO J. 1997 Jul 1;16(13):3965-73 [9233806.001]
  • [Cites] Nat Genet. 1999 Oct;23(2):166-75 [10508512.001]
  • [Cites] Science. 1999 Oct 15;286(5439):531-7 [10521349.001]
  • [Cites] Blood. 2004 Nov 15;104(10):3136-47 [15297311.001]
  • [Cites] Blood. 2004 Dec 1;104(12):3679-87 [15226186.001]
  • [Cites] Nat Rev Cancer. 2005 Jan;5(1):11-20 [15630411.001]
  • [Cites] Blood. 2005 Mar 1;105(5):1851-61 [15550490.001]
  • [Cites] Nature. 2005 Mar 17;434(7031):338-45 [15735639.001]
  • [Cites] Blood. 2005 Apr 15;105(8):3100-8 [15613547.001]
  • [Cites] Klin Padiatr. 2005 May-Jun;217(3):126-34 [15858703.001]
  • [Cites] Nat Genet. 2005 Jun;37(6):613-9 [15895080.001]
  • [Cites] Blood. 2006 Feb 15;107(4):1570-81 [16249385.001]
  • [Cites] Blood. 2005 Jul 1;106(1):254-64 [15755900.001]
  • [Cites] Leukemia. 2005 Aug;19(8):1355-60 [15920490.001]
  • [Cites] Blood. 2005 Aug 15;106(4):1223-31 [15860665.001]
  • [Cites] Leuk Res. 2005 Oct;29(10):1223-6 [16111539.001]
  • [Cites] Cancer Res. 2005 Sep 1;65(17):7596-602 [16140924.001]
  • [Cites] Trends Cardiovasc Med. 2003 Oct;13(7):261-4 [14522464.001]
  • (PMID = 16492768.001).
  • [ISSN] 0027-8424
  • [Journal-full-title] Proceedings of the National Academy of Sciences of the United States of America
  • [ISO-abbreviation] Proc. Natl. Acad. Sci. U.S.A.
  • [Language] eng
  • [Databank-accession-numbers] OMIM/ GSE4119
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Core Binding Factor Alpha 2 Subunit; 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human; 0 / RUNX1 protein, human; 0 / Transcription Factors
  • [Other-IDs] NLM/ PMC1413912
  •  go-up   go-down


66. Morerio C, Rapella A, Tassano E, Rosanda C, Panarello C: MLL-MLLT10 fusion gene in pediatric acute megakaryoblastic leukemia. Leuk Res; 2005 Oct;29(10):1223-6
Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] MLL-MLLT10 fusion gene in pediatric acute megakaryoblastic leukemia.
  • The occurrence of MLL gene rearrangement in acute megakaryoblastic leukemia (AML-M7, acute myeloid leukemia, French-American-British type M7) is very rare and limited to pediatric age: in particular, MLL-MLLT10 fusion, previously reported as characteristic of monocytic leukemia, has been reported in only one case of pediatric megakaryoblastic leukemia.
  • We describe the second case with this association in light of the few reported cases of AML-M7 with MLL and/or 11q23 involvement.
  • [MeSH-major] Chromosomes, Human, Pair 11 / genetics. Leukemia, Megakaryoblastic, Acute / genetics. Oncogene Proteins, Fusion / genetics
  • [MeSH-minor] Child, Preschool. Female. Humans. In Situ Hybridization, Fluorescence. Karyotyping. Male. Myeloid-Lymphoid Leukemia Protein. Translocation, Genetic

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 16111539.001).
  • [ISSN] 0145-2126
  • [Journal-full-title] Leukemia research
  • [ISO-abbreviation] Leuk. Res.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / MLL-AF10 fusion protein, human; 0 / Oncogene Proteins, Fusion; 149025-06-9 / Myeloid-Lymphoid Leukemia Protein
  • [Number-of-references] 15
  •  go-up   go-down


67. Cushing T, Clericuzio CL, Wilson CS, Taub JW, Ge Y, Reichard KK, Winter SS: Risk for leukemia in infants without Down syndrome who have transient myeloproliferative disorder. J Pediatr; 2006 May;148(5):687-9
Genetic Alliance. consumer health - Down Syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Risk for leukemia in infants without Down syndrome who have transient myeloproliferative disorder.
  • Transient myeloproliferative disorder (TMD) occurs in 10% of infants with Down syndrome (DS).
  • Down syndrome infants with resolved TMD may later develop acute megakaryocytic leukemia (AMKL).
  • In these patients, AMKL is associated with somatic mutations in the X-linked transcription factor gene, GATA1.
  • AMKL also has been described after TMD in children without DS.
  • We report on a non-DS child identified with trisomy 21 mosaicism and a GATA1 mutation in the original blast cells who has been followed for 2 years without exhibiting AMKL.
  • Currently, the risk for such infants developing acute leukemia is uncertain.
  • [MeSH-major] GATA1 Transcription Factor / genetics. Leukemia, Megakaryoblastic, Acute / genetics. Myeloproliferative Disorders / genetics

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [CommentIn] J Pediatr. 2007 Mar;150(3):e34 [17307526.001]
  • (PMID = 16737888.001).
  • [ISSN] 0022-3476
  • [Journal-full-title] The Journal of pediatrics
  • [ISO-abbreviation] J. Pediatr.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / GATA1 Transcription Factor
  •  go-up   go-down


68. Kanezaki R, Toki T, Xu G, Narayanan R, Ito E: Cloning and characterization of the novel chimeric gene p53/FXR2 in the acute megakaryoblastic leukemia cell line CMK11-5. Tohoku J Exp Med; 2006 Jul;209(3):169-80
NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Cloning and characterization of the novel chimeric gene p53/FXR2 in the acute megakaryoblastic leukemia cell line CMK11-5.
  • Western blot analyses have shown that the p53/FXR2 protein is indeed expressed in a Down syndrome-related acute megakaryoblastic leukemia cell line, CMK11-5 cells.
  • The p53/FXR2 protein was expressed at high levels in the cytoplasm, whereas wild-type p53 and FXR2 were localized primarily in the nucleus and in the periphery of the nucleus, respectively.
  • These results suggest that the p53/FXR2 fusion protein lacks the ability of wild-type p53 to function as a transcription factor.
  • [MeSH-major] Genes, p53 / genetics. Leukemia, Megakaryoblastic, Acute / genetics. Mutant Chimeric Proteins / genetics. RNA-Binding Proteins / genetics

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • Hazardous Substances Data Bank. ETOPOSIDE .
  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 16778363.001).
  • [ISSN] 0040-8727
  • [Journal-full-title] The Tohoku journal of experimental medicine
  • [ISO-abbreviation] Tohoku J. Exp. Med.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Japan
  • [Chemical-registry-number] 0 / CDKN1A protein, human; 0 / Cyclin-Dependent Kinase Inhibitor p21; 0 / FXR2 protein, human; 0 / Mutant Chimeric Proteins; 0 / RNA-Binding Proteins; 0 / Topoisomerase II Inhibitors; 6PLQ3CP4P3 / Etoposide
  •  go-up   go-down


69. Malinge S, Izraeli S, Crispino JD: Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome. Blood; 2009 Mar 19;113(12):2619-28
COS Scholar Universe. author profiles.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Moreover, hematologists have also noted that these children commonly show macrocytosis, abnormal platelet counts, and an increased incidence of transient myeloproliferative disease (TMD), acute megakaryocytic leukemia (AMKL), and acute lymphoid leukemia (ALL).
  • In this review, we summarize the clinical manifestations and characteristics of these leukemias, provide an update on therapeutic strategies and patient outcomes, and discuss the most recent advances in DS-leukemia research.
  • With the increased knowledge of the way in which trisomy 21 affects hematopoiesis and the specific genetic mutations that are found in DS-associated leukemias, we are well on our way toward designing improved strategies for treating both myeloid and lymphoid malignancies in this high-risk population.

  • Genetic Alliance. consumer health - Down Syndrome.
  • MedlinePlus Health Information. consumer health - Down Syndrome.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Nat Cell Biol. 2007 Mar;9(3):339-46 [17277770.001]
  • [Cites] Nature. 2007 Apr 12;446(7137):758-64 [17344859.001]
  • [Cites] Br J Haematol. 2007 May;137(4):337-41 [17456055.001]
  • [Cites] Immunity. 2007 Apr;26(4):421-31 [17442597.001]
  • [Cites] Leukemia. 2007 Jul;21(7):1584-7 [17443226.001]
  • [Cites] Blood. 2007 Aug 1;110(3):1077-9 [17644747.001]
  • [Cites] Mamm Genome. 2007 Jul;18(6-7):431-43 [17653795.001]
  • [Cites] Blood. 2007 Sep 15;110(6):2128-31 [17576817.001]
  • [Cites] Bone Marrow Transplant. 2007 Nov;40(10):945-9 [17768387.001]
  • [Cites] Nature. 2008 Jan 3;451(7174):73-5 [18172498.001]
  • [Cites] Blood. 2008 Jan 15;111(2):767-75 [17901249.001]
  • [Cites] Blood. 2008 Feb 1;111(3):1575-83 [17971484.001]
  • [Cites] Br J Haematol. 2008 Mar;140(5):552-61 [18275433.001]
  • [Cites] Blood. 2008 Mar 15;111(6):2991-8 [18182574.001]
  • [Cites] Leukemia. 2008 Mar;22(3):521-9 [18094719.001]
  • [Cites] J Exp Med. 2008 Mar 17;205(3):585-94 [18299402.001]
  • [Cites] Biochem Biophys Res Commun. 2008 Jun 6;370(3):473-7 [18387358.001]
  • [Cites] Br J Haematol. 2008 May;141(5):681-8 [18397343.001]
  • [Cites] Curr Opin Hematol. 2008 Jul;15(4):352-8 [18536574.001]
  • [Cites] Nat Immunol. 2008 Jul;9(7):810-9 [18500345.001]
  • [Cites] Leukemia. 2008 Jul;22(7):1428-30 [18059480.001]
  • [Cites] Cancer. 2008 Aug 1;113(3):515-21 [18521927.001]
  • [Cites] Br J Haematol. 2008 Aug;142(4):610-5 [18510680.001]
  • [Cites] Br J Haematol. 2008 Sep;142(6):934-45 [18557744.001]
  • [Cites] Lancet. 2008 Oct 25;372(9648):1484-92 [18805579.001]
  • [Cites] Blood. 2008 Nov 15;112(10):4220-6 [18755984.001]
  • [Cites] Blood. 2008 Dec 1;112(12):4507-11 [18689547.001]
  • [Cites] Blood. 2008 Dec 1;112(12):4503-6 [18812473.001]
  • [Cites] Blood. 2009 Jan 15;113(3):646-8 [18927438.001]
  • [Cites] Blood. 2009 Feb 26;113(9):1929-37 [19109561.001]
  • [Cites] Leukemia. 1998 May;12(5):645-51 [9593260.001]
  • [Cites] Proc Natl Acad Sci U S A. 1998 May 26;95(11):6256-61 [9600952.001]
  • [Cites] Blood. 1999 Mar 15;93(6):1817-24 [10068652.001]
  • [Cites] Clin Immunol. 1999 Apr;91(1):50-60 [10219254.001]
  • [Cites] Pediatr Blood Cancer. 2005 Jan;44(1):21-8 [15368546.001]
  • [Cites] Pediatr Blood Cancer. 2005 Jan;44(1):8-12 [15390275.001]
  • [Cites] Pediatr Blood Cancer. 2005 Jan;44(1):1-7 [15486953.001]
  • [Cites] J Natl Cancer Inst. 2005 Feb 2;97(3):226-31 [15687366.001]
  • [Cites] Eur J Hum Genet. 2009 Apr;17(4):454-66 [19002211.001]
  • [Cites] Genome Res. 1999 Dec;9(12):1214-22 [10613844.001]
  • [Cites] Cancer Genet Cytogenet. 2000 Jan 1;116(1):1-5 [10616523.001]
  • [Cites] Br J Haematol. 2000 Sep;110(3):512-24 [10997960.001]
  • [Cites] Blood. 2000 Oct 15;96(8):2862-9 [11023523.001]
  • [Cites] Genet Med. 2001 Mar-Apr;3(2):91-101 [11280955.001]
  • [Cites] Arch Dis Child. 2001 Oct;85(4):321-5 [11567943.001]
  • [Cites] Blood. 2002 Jan 1;99(1):245-51 [11756178.001]
  • [Cites] Lancet Oncol. 2001 Jul;2(7):429-36 [11905737.001]
  • [Cites] Cancer Cell. 2002 Mar;1(2):133-43 [12086872.001]
  • [Cites] Blood. 2002 Jul 15;100(2):618-26 [12091356.001]
  • [Cites] Nat Genet. 2002 Sep;32(1):148-52 [12172547.001]
  • [Cites] Hum Mol Genet. 2003 Feb 1;12(3):247-55 [12554679.001]
  • [Cites] Br J Haematol. 2003 Mar;120(6):930-8 [12648061.001]
  • [Cites] Blood. 2003 Jun 1;101(11):4298-300 [12560215.001]
  • [Cites] Blood. 2003 Jun 1;101(11):4333-41 [12576332.001]
  • [Cites] Blood. 2003 Jun 1;101(11):4301-4 [12586620.001]
  • [Cites] Blood. 2003 Aug 1;102(3):981-6 [12649131.001]
  • [Cites] J Clin Oncol. 2003 Sep 15;21(18):3415-22 [12885836.001]
  • [Cites] Blood. 2003 Oct 15;102(8):2960-8 [12816863.001]
  • [Cites] Leukemia. 2003 Nov;17(11):2250-2 [12931214.001]
  • [Cites] Gene. 2003 Oct 30;318:137-47 [14585506.001]
  • [Cites] Proc Natl Acad Sci U S A. 2004 Mar 16;101(11):3915-20 [15007164.001]
  • [Cites] Oncogene. 2004 May 24;23(24):4211-9 [15156175.001]
  • [Cites] Br J Haematol. 2004 Jul;126(1):3-10 [15198727.001]
  • [Cites] Blood. 2004 Sep 1;104(5):1588-9 [15317736.001]
  • [Cites] Science. 2004 Oct 22;306(5696):687-90 [15499018.001]
  • [Cites] Nat Rev Genet. 2004 Oct;5(10):725-38 [15510164.001]
  • [Cites] J Exp Med. 1985 Aug 1;162(2):695-712 [3160808.001]
  • [Cites] Dev Genet. 1991;12(6):415-22 [1688019.001]
  • [Cites] J Clin Oncol. 1993 Jul;11(7):1361-7 [8315434.001]
  • [Cites] Am J Med Genet. 1993 Jun 15;46(5):510-2 [8322810.001]
  • [Cites] Cancer Res. 1994 Jun 1;54(11):2865-8 [8187069.001]
  • [Cites] Proc Natl Acad Sci U S A. 1994 May 24;91(11):4997-5001 [8197171.001]
  • [Cites] Eur J Hum Genet. 1993;1(2):114-24 [8055322.001]
  • [Cites] Nat Genet. 1995 Oct;11(2):177-84 [7550346.001]
  • [Cites] Leuk Lymphoma. 1996 May;21(5-6):359-68 [9172800.001]
  • [Cites] Leukemia. 1997 Jun;11(6):820-1 [9177434.001]
  • [Cites] Genes Dev. 1998 May 1;12(9):1315-26 [9573048.001]
  • [Cites] Br J Haematol. 2005 Mar;128(6):797-804 [15755283.001]
  • [Cites] Proc Natl Acad Sci U S A. 2005 Mar 22;102(12):4500-5 [15755806.001]
  • [Cites] Klin Padiatr. 2005 May-Jun;217(3):126-34 [15858703.001]
  • [Cites] Pediatr Hematol Oncol. 2005 Apr-May;22(3):229-34 [16020107.001]
  • [Cites] Leukemia. 2005 Aug;19(8):1355-60 [15920490.001]
  • [Cites] Cancer Res. 2005 Sep 1;65(17):7596-602 [16140924.001]
  • [Cites] Science. 2005 Sep 23;309(5743):2033-7 [16179473.001]
  • [Cites] Blood. 2005 Dec 15;106(13):4043-9 [16109782.001]
  • [Cites] J Clin Oncol. 2005 Dec 20;23(36):9234-42 [16275934.001]
  • [Cites] Br J Haematol. 2006 Mar;132(5):576-83 [16445830.001]
  • [Cites] Blood. 2006 Feb 15;107(4):1570-81 [16249385.001]
  • [Cites] Proc Natl Acad Sci U S A. 2006 Feb 28;103(9):3339-44 [16492768.001]
  • [Cites] Proc Natl Acad Sci U S A. 2006 Mar 28;103(13):5078-83 [16549775.001]
  • [Cites] Br J Haematol. 2006 Jun;133(6):646-8 [16704441.001]
  • [Cites] Blood. 2006 Jun 15;107(12):4606-13 [16469874.001]
  • [Cites] Nat Genet. 2006 Jul;38(7):807-12 [16783379.001]
  • [Cites] Cancer Cell. 2006 Jul;10(1):65-75 [16843266.001]
  • [Cites] Leuk Res. 2006 Sep;30(9):1085-9 [16533526.001]
  • [Cites] C R Biol. 2006 Sep;329(9):726-32 [16945839.001]
  • [Cites] Blood. 2006 Oct 1;108(7):2198-206 [16757682.001]
  • [Cites] J Clin Oncol. 2006 Oct 10;24(29):4714-20 [16954520.001]
  • [Cites] Mamm Genome. 2006 Oct;17(10):1005-12 [17019652.001]
  • [Cites] Br J Haematol. 2006 Dec;135(5):595-602 [17054672.001]
  • [Cites] Curr Opin Pediatr. 2007 Feb;19(1):9-14 [17224656.001]
  • [Cites] Blood. 2007 Mar 1;109(5):2202-4 [17068151.001]
  • [Cites] Leukemia. 2007 Mar;21(3):574-6 [17252020.001]
  • (PMID = 19139078.001).
  • [ISSN] 1528-0020
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / 2R01CA101774; United States / NCI NIH HHS / CA / 1R01CA120772-01A2; United States / NCI NIH HHS / CA / R01 CA101774-07; United States / NCI NIH HHS / CA / R01 CA101774; United States / NCI NIH HHS / CA / CA101774-07; United States / NCI NIH HHS / CA / R01 CA120772
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human; 0 / MicroRNAs; 0 / Neoplasm Proteins; 0 / RNA, Neoplasm; EC 2.7.10.2 / Janus Kinases
  • [Number-of-references] 105
  • [Other-IDs] NLM/ PMC2661853
  •  go-up   go-down


70. De Vita S, Mulligan C, McElwaine S, Dagna-Bricarelli F, Spinelli M, Basso G, Nizetic D, Groet J: Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome. Br J Haematol; 2007 May;137(4):337-41
The Lens. Cited by Patents in .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome.
  • Acquired mutations activating Janus kinase 3 (jak3) have been reported in Down syndrome (DS) and non-DS patients with acute megakaryoblastic leukaemia (AMKL).
  • This highlighted jak3-activation as an important event in the pathogenesis of AMKL, and predicted inhibitors of jak3 as conceptual therapeutics for AMKL.
  • Of 16 DS-transient myeloproliferative disorder (TMD)/AMKL patients tested, seven showed JAK3 mutations.
  • Our data suggest that both gain-, and loss-of function mutations of jak3 can be acquired in DS-TMD/AMKL.
  • [MeSH-major] Down Syndrome / genetics. Janus Kinase 3 / genetics. Leukemia, Megakaryoblastic, Acute / genetics. Mutation

  • Genetic Alliance. consumer health - Down Syndrome.
  • MedlinePlus Health Information. consumer health - Down Syndrome.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 17456055.001).
  • [ISSN] 0007-1048
  • [Journal-full-title] British journal of haematology
  • [ISO-abbreviation] Br. J. Haematol.
  • [Language] eng
  • [Grant] Italy / Telethon / / C.51
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] EC 2.7.10.1 / Protein-Tyrosine Kinases; EC 2.7.10.2 / Janus Kinase 3
  •  go-up   go-down


71. Li-Thiao-Te V, Bourges-Petit E, Capiod JC, Horle B, Micheli J, Morin G, Maingourd Y, Pautard B: [Congenital transient leukemia: a case report]. Arch Pediatr; 2008 Jan;15(1):33-6
MedlinePlus Health Information. consumer health - Down Syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Congenital transient leukemia: a case report].
  • [Transliterated title] Un cas de leucémie congénitale transitoire.
  • Neonates with Down's syndrome have an increased risk for congenital leukaemia, particularly acute megakaryoblastic leukaemia (FAB, M7) which most often resolves spontaneously and is called transient leukaemia.
  • OBSERVATION: We report a transient leukaemia with an isolated pericardial effusion in a phenotypically normal neonate.
  • DISCUSSION: Congenital leukaemias, with trisomy 21 on blasts cells have a good prognosis that justifies observation before using chemotherapy.
  • [MeSH-major] Down Syndrome / complications. Leukemia, Megakaryoblastic, Acute / congenital

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 18162385.001).
  • [ISSN] 0929-693X
  • [Journal-full-title] Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
  • [ISO-abbreviation] Arch Pediatr
  • [Language] fre
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Antigens, CD
  •  go-up   go-down


72. Sandoval C, Davis A, Jayabose S: Eyelid mass as the presenting finding in a child with Down syndrome and acute megakaryoblastic leukemia. Pediatrics; 2005 Mar;115(3):810-1
MedlinePlus Health Information. consumer health - Eyelid Disorders.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Eyelid mass as the presenting finding in a child with Down syndrome and acute megakaryoblastic leukemia.
  • Children with Down syndrome are at increased risk of developing acute megakaryoblastic leukemia (AML).
  • We describe a child with Down syndrome presenting with a left eyelid mass 1 month before a diagnosis of acute AML.
  • [MeSH-major] Down Syndrome / complications. Eyelid Diseases / etiology. Leukemia, Megakaryoblastic, Acute / diagnosis


73. Ishikawa M, Nishijima N, Shiota J, Sakagami H, Tsuchida K, Mizukoshi M, Fukuchi M, Tsuda M, Tabuchi A: Involvement of the serum response factor coactivator megakaryoblastic leukemia (MKL) in the activin-regulated dendritic complexity of rat cortical neurons. J Biol Chem; 2010 Oct 22;285(43):32734-43

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Involvement of the serum response factor coactivator megakaryoblastic leukemia (MKL) in the activin-regulated dendritic complexity of rat cortical neurons.
  • Dynamic changes in neuronal morphology and transcriptional regulation play crucial roles in the neuronal network and function.
  • Accumulating evidence suggests that the megakaryoblastic leukemia (MKL) family members, which function not only as actin-binding proteins but also as serum response factor (SRF) transcriptional coactivators, regulate neuronal morphology.
  • However, the extracellular ligands and signaling pathways, which activate MKL-mediated morphological changes in neurons, remain unresolved.
  • Activin promoted dendritic complexity in a SRF- and MKL-dependent manner without drastically affecting MKL localization and protein levels.
  • In contrast, activin promoted the nuclear export of suppressor of cancer cell invasion (SCAI), which is a corepressor for SRF and MKL.
  • Collectively, these results strongly suggest that activin-SCAI-MKL signaling is a novel pathway that regulates the dendritic morphology of rat cortical neurons by excluding SCAI from the nucleus and activating MKL/SRF-mediated gene expression.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] J Biol Chem. 2004 Nov 12;279(46):47856-65 [15355970.001]
  • [Cites] Mol Cell Biol. 2008 Oct;28(20):6302-13 [18694962.001]
  • [Cites] Nat Neurosci. 2005 Jun;8(6):759-67 [15880109.001]
  • [Cites] J Neurochem. 2005 Jul;94(1):169-80 [15953360.001]
  • [Cites] Proc Natl Acad Sci U S A. 2005 Jun 21;102(25):8916-21 [15951419.001]
  • [Cites] Proc Natl Acad Sci U S A. 2005 Oct 18;102(42):15122-7 [16204380.001]
  • [Cites] Nat Neurosci. 2006 Feb;9(2):195-204 [16415869.001]
  • [Cites] Neuron. 2006 Apr 6;50(1):127-43 [16600861.001]
  • [Cites] Genes Dev. 2006 Jun 15;20(12):1545-56 [16778073.001]
  • [Cites] Mol Cell Biol. 2006 Aug;26(15):5797-808 [16847332.001]
  • [Cites] Mol Cell Biol. 2006 Aug;26(15):5809-26 [16847333.001]
  • [Cites] J Neurochem. 2006 Sep;98(6):1778-88 [16945101.001]
  • [Cites] J Neurosci. 2006 Sep 27;26(39):10020-32 [17005865.001]
  • [Cites] Biochim Biophys Acta. 2006 Nov-Dec;1759(11-12):503-13 [17182123.001]
  • [Cites] J Neurochem. 2007 Jan;100(2):520-31 [17059557.001]
  • [Cites] Cell Res. 2009 Jan;19(1):128-39 [19114990.001]
  • [Cites] Mol Psychiatry. 2009 Mar;14(3):332-46 [18180762.001]
  • [Cites] Neurosci Lett. 2009 Mar 20;452(3):232-7 [19348730.001]
  • [Cites] J Neurosci. 2009 Apr 8;29(14):4512-8 [19357276.001]
  • [Cites] Nat Cell Biol. 2009 May;11(5):557-68 [19350017.001]
  • [Cites] Trends Neurosci. 2009 Aug;32(8):432-42 [19643506.001]
  • [Cites] Learn Mem. 2010 Apr;17(4):176-85 [20332189.001]
  • [Cites] Cereb Cortex. 2010 Aug;20(8):1915-25 [20016002.001]
  • [Cites] Cell. 2009 Nov 13;139(4):814-27 [19914173.001]
  • [Cites] J Biol Chem. 2000 Jun 9;275(23):17269-75 [10748141.001]
  • [Cites] Cell. 2000 Oct 13;103(2):295-309 [11057902.001]
  • [Cites] J Biol Chem. 2002 Aug 9;277(32):28853-60 [12019265.001]
  • [Cites] J Biol Chem. 2002 Sep 27;277(39):35920-31 [12114522.001]
  • [Cites] Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):14855-60 [12397177.001]
  • [Cites] Cell. 2003 May 2;113(3):329-42 [12732141.001]
  • [Cites] Mol Cell Biol. 2003 Sep;23(18):6597-608 [12944485.001]
  • [Cites] J Biol Chem. 2003 Oct 24;278(43):41977-87 [14565952.001]
  • [Cites] J Mol Cell Cardiol. 2003 Dec;35(12):1407-20 [14654367.001]
  • [Cites] Gene. 2004 Jan 7;324:1-14 [14693367.001]
  • [Cites] J Cell Biochem. 2004 Sep 1;93(1):74-82 [15352164.001]
  • [Cites] Nucleic Acids Res. 1989 Aug 11;17(15):6419 [2771659.001]
  • [Cites] EMBO J. 1995 Oct 16;14(20):4905-13 [7588619.001]
  • [Cites] Neuroscience. 1995 Dec;69(3):781-96 [8596648.001]
  • [Cites] FEBS Lett. 1996 Mar 11;382(1-2):48-52 [8612762.001]
  • [Cites] J Neuroendocrinol. 1997 Feb;9(2):105-11 [9041363.001]
  • [Cites] Brain Res Mol Brain Res. 1998 Mar 1;54(2):311-5 [9555071.001]
  • [Cites] Nat Cell Biol. 2007 Sep;9(9):1000-4 [17762890.001]
  • [Cites] J Neurochem. 2007 Oct;103(2):626-36 [17711418.001]
  • [Cites] J Cell Sci. 2007 Nov 1;120(Pt 21):3830-7 [17940062.001]
  • [Cites] J Cell Biol. 2007 Dec 3;179(5):1027-42 [18056415.001]
  • [Cites] PLoS One. 2008;3(4):e1869 [18382659.001]
  • [Cites] Neuron. 2008 May 22;58(4):532-45 [18498735.001]
  • [Cites] Proc Natl Acad Sci U S A. 2005 Apr 26;102(17):6148-53 [15837932.001]
  • (PMID = 20709749.001).
  • [ISSN] 1083-351X
  • [Journal-full-title] The Journal of biological chemistry
  • [ISO-abbreviation] J. Biol. Chem.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / MKL1 protein, mouse; 0 / Trans-Activators; 0 / Transcription Factors; 0 / myocardin-related transcription factor B, mouse; 104625-48-1 / Activins
  • [Other-IDs] NLM/ PMC2963415
  •  go-up   go-down


74. Fujino H, Fujita N, Hamamoto K, Oobu S, Kita M, Tanaka A, Matsubara H, Watanabe K, Heike T, Adachi S: Ring/marker chromosome derived from chromosome 7 in childhood acute megakaryoblastic leukemia with monosomy 7. Int J Hematol; 2010 Sep;92(2):386-90
Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Ring/marker chromosome derived from chromosome 7 in childhood acute megakaryoblastic leukemia with monosomy 7.
  • In some cases of childhood acute megakaryoblastic leukemia (AMKL), G-band analysis reveals supernumerary ring/marker chromosomes along with monosomy 7.
  • We experienced three patients with AMKL, one of whom had Down's syndrome, whose blasts at the first visit exhibited both monosomy 7 and a ring/marker chromosome.
  • While it is not clear whether the ring/marker chromosome 7 affects the long-term prognosis of acute myeloid leukemia with monosomy 7, it may be of prognostic relevance to distinguish pure monosomy 7 from monosomy 7 with a ring/marker chromosome 7.
  • These methods may be useful for determining the optimal treatment and for elucidating the etiology of AMKL itself.
  • [MeSH-major] Chromosome Aberrations. Chromosomes, Human, Pair 7. Leukemia, Megakaryoblastic, Acute / genetics

  • Genetic Alliance. consumer health - Chromosome 7, Monosomy.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 20809201.001).
  • [ISSN] 1865-3774
  • [Journal-full-title] International journal of hematology
  • [ISO-abbreviation] Int. J. Hematol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  •  go-up   go-down


75. Massey GV: Transient leukemia in newborns with Down syndrome. Pediatr Blood Cancer; 2005 Jan;44(1):29-32
COS Scholar Universe. author profiles.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Transient leukemia in newborns with Down syndrome.
  • Children with Down syndrome (DS) have a 10- to 20-fold increased risk of developing leukemia, particularly acute megakaryocytic leukemia.
  • Newborns with DS or trisomy 21 mosaicism may exhibit a particularly unique form of leukemia that historically has been associated with a high rate of spontaneous remission.
  • This transient leukemia (TL) has been shown to be a clonal proliferation of blast cells exhibiting megakaryocytic features.
  • At presentation, many infants are clinically well with only an incidental finding of abnormal blood counts and circulating blasts in the peripheral blood.
  • However, in approximately 20% of cases, the disease is severe and life-threatening, manifesting as hydrops faetalis, multiple effusions, and liver or multi-organ system failure resulting in death.
  • Of those children who enter a spontaneous remission, 13-33% have been found to develop subsequent acute megakaryoblastic leukemia, usually within the first 3 years of life, which if left untreated is fatal.
  • [MeSH-major] Down Syndrome / complications. Leukemia, Megakaryoblastic, Acute / etiology. Leukemia, Megakaryoblastic, Acute / pathology

  • Genetic Alliance. consumer health - Down Syndrome.
  • MedlinePlus Health Information. consumer health - Down Syndrome.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Copyright] (c) 2004 Wiley-Liss, Inc.
  • (PMID = 15558701.001).
  • [ISSN] 1545-5009
  • [Journal-full-title] Pediatric blood & cancer
  • [ISO-abbreviation] Pediatr Blood Cancer
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 53
  •  go-up   go-down


76. Mercher T, Wernig G, Moore SA, Levine RL, Gu TL, Fröhling S, Cullen D, Polakiewicz RD, Bernard OA, Boggon TJ, Lee BH, Gilliland DG: JAK2T875N is a novel activating mutation that results in myeloproliferative disease with features of megakaryoblastic leukemia in a murine bone marrow transplantation model. Blood; 2006 Oct 15;108(8):2770-9
The Lens. Cited by Patents in .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] JAK2T875N is a novel activating mutation that results in myeloproliferative disease with features of megakaryoblastic leukemia in a murine bone marrow transplantation model.
  • Acute megakaryoblastic leukemia (AMKL) is a subtype of acute myeloid leukemia associated with a poor prognosis.
  • However, there are relatively few insights into the genetic etiology of AMKL.
  • We developed a screening assay for mutations that cause AMKL, based on the hypothesis that constitutive activation of STAT5 would be a biochemical indicator of mutation in an upstream effector tyrosine kinase.
  • We screened human AMKL cell lines for constitutive STAT5 activation, and then used an approach combining mass spectrometry identification of tyrosine phosphorylated proteins and growth inhibition in the presence of selective small molecule tyrosine kinase inhibitors that would inform DNA sequence analysis of candidate tyrosine kinases.
  • Using this strategy, we identified a new JAK2T875N mutation in the AMKL cell line CHRF-288-11.
  • In a murine transplant model, JAK2T875N induced a myeloproliferative disease characterized by features of AMKL, including megakaryocytic hyperplasia in the spleen; impaired megakaryocyte polyploidization; and increased reticulin fibrosis of the bone marrow and spleen.
  • These findings provide new insights into pathways and therapeutic targets that contribute to the pathogenesis of AMKL.

  • Genetic Alliance. consumer health - Transplantation.
  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Oncogene. 2000 Feb 3;19(5):624-31 [10698507.001]
  • [Cites] Blood. 2006 Jun 1;107(11):4274-81 [16478879.001]
  • [Cites] Blood. 2001 Jun 1;97(11):3342-8 [11369622.001]
  • [Cites] Nat Genet. 2001 Jul;28(3):220-1 [11431691.001]
  • [Cites] Eur J Haematol. 2001 Aug;67(2):63-71 [11722592.001]
  • [Cites] Blood. 2002 Feb 1;99(3):888-97 [11806991.001]
  • [Cites] Blood. 2002 Jul 15;100(2):618-26 [12091356.001]
  • [Cites] Nat Genet. 2002 Sep;32(1):148-52 [12172547.001]
  • [Cites] Eur J Haematol. 2002 Aug;69(2):108-11 [12366715.001]
  • [Cites] Blood. 2002 Nov 15;100(10):3838; author reply 3838-9 [12411327.001]
  • [Cites] Blood. 2003 Apr 15;101(8):2940-54 [12480704.001]
  • [Cites] Leuk Lymphoma. 2003 Jan;44(1):49-58 [12691142.001]
  • [Cites] Am J Hematol. 2003 Jun;73(2):71-80 [12749007.001]
  • [Cites] Clin Cancer Res. 2003 Jun;9(6):2140-50 [12796379.001]
  • [Cites] Oncogene. 2003 Jul 24;22(30):4710-22 [12879016.001]
  • [Cites] Nat Rev Cancer. 2003 Sep;3(9):650-65 [12951584.001]
  • [Cites] Blood. 2004 Jan 15;103(2):399-406 [14512321.001]
  • [Cites] Blood. 2004 Apr 1;103(7):2802-5 [14630792.001]
  • [Cites] J Exp Med. 2004 Sep 6;200(5):569-80 [15337790.001]
  • [Cites] Br J Haematol. 1984 Apr;56(4):589-605 [6231944.001]
  • [Cites] Cancer. 1986 Jul 15;58(2):238-44 [3719517.001]
  • [Cites] Cancer. 1987 Dec 1;60(11):2654-61 [3479228.001]
  • [Cites] Cancer. 1990 Feb 15;65(4):940-8 [2297663.001]
  • [Cites] Blood. 1990 Mar 15;75(6):1252-61 [2310825.001]
  • [Cites] Mol Cell Biol. 1991 Apr;11(4):1980-7 [1848667.001]
  • [Cites] Acta Crystallogr A. 1991 Mar 1;47 ( Pt 2):110-9 [2025413.001]
  • [Cites] Blood. 1992 Jun 15;79(12):3325-30 [1596573.001]
  • [Cites] Pediatr Hematol Oncol. 1992 Apr-Jun;9(2):139-49 [1388043.001]
  • [Cites] Blood. 1992 Dec 15;80(12):3022-35 [1281685.001]
  • [Cites] J Biol Chem. 1994 Dec 2;269(48):30173-80 [7982923.001]
  • [Cites] Blood. 1996 Mar 1;87(5):1692-7 [8634413.001]
  • [Cites] EMBO J. 1998 Sep 15;17(18):5321-33 [9736611.001]
  • [Cites] Blood. 1999 May 1;93(9):3074-80 [10216104.001]
  • [Cites] Bioessays. 1999 Apr;21(4):353-60 [10377897.001]
  • [Cites] FASEB J. 1999 Oct;13(13):1699-710 [10506573.001]
  • [Cites] J Pediatr Hematol Oncol. 1999 Sep-Oct;21(5):428-30 [10524459.001]
  • [Cites] Nat Biotechnol. 2005 Jan;23(1):94-101 [15592455.001]
  • [Cites] Blood. 2005 Feb 1;105(3):973-7 [15388582.001]
  • [Cites] Semin Cell Dev Biol. 2005 Feb;16(1):137-47 [15659348.001]
  • [Cites] Lancet. 2005 Mar 19-25;365(9464):1054-61 [15781101.001]
  • [Cites] Cancer Cell. 2005 Apr;7(4):387-97 [15837627.001]
  • [Cites] N Engl J Med. 2005 Apr 28;352(17):1779-90 [15858187.001]
  • [Cites] Nature. 2005 Apr 28;434(7037):1144-8 [15793561.001]
  • [Cites] Nat Genet. 2005 Jun;37(6):613-9 [15895080.001]
  • [Cites] Blood. 2005 Aug 1;106(3):996-1002 [15831699.001]
  • [Cites] Blood. 2005 Nov 15;106(10):3370-3 [16037387.001]
  • [Cites] Blood. 2006 Jan 1;107(1):176-83 [16174768.001]
  • [Cites] Proc Natl Acad Sci U S A. 2005 Dec 27;102(52):18962-7 [16365288.001]
  • [Cites] Proc Natl Acad Sci U S A. 2001 May 8;98(10):5776-9 [11344311.001]
  • (PMID = 16804112.001).
  • [ISSN] 0006-4971
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA 66996; United States / NIDDK NIH HHS / DK / DK 50654
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Proto-Oncogene Proteins; 0 / STAT5 Transcription Factor; EC 2.7.10.1 / Protein-Tyrosine Kinases; EC 2.7.10.2 / JAK2 protein, human; EC 2.7.10.2 / Jak2 protein, mouse; EC 2.7.10.2 / Janus Kinase 2
  • [Other-IDs] NLM/ PMC1895587
  •  go-up   go-down


77. Mercher T, Raffel GD, Moore SA, Cornejo MG, Baudry-Bluteau D, Cagnard N, Jesneck JL, Pikman Y, Cullen D, Williams IR, Akashi K, Shigematsu H, Bourquin JP, Giovannini M, Vainchenker W, Levine RL, Lee BH, Bernard OA, Gilliland DG: The OTT-MAL fusion oncogene activates RBPJ-mediated transcription and induces acute megakaryoblastic leukemia in a knockin mouse model. J Clin Invest; 2009 Apr;119(4):852-64
The Lens. Cited by Patents in .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The OTT-MAL fusion oncogene activates RBPJ-mediated transcription and induces acute megakaryoblastic leukemia in a knockin mouse model.
  • Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) associated with a poor prognosis.
  • The genetics and pathophysiology of AMKL are not well understood.
  • We generated a knockin mouse model of the one twenty-two-megakaryocytic acute leukemia (OTT-MAL) fusion oncogene that results from the t(1;22)(p13;q13) translocation specifically associated with a subtype of pediatric AMKL.
  • Furthermore, cooperation between OTT-MAL and an activating mutation of the thrombopoietin receptor myeloproliferative leukemia virus oncogene (MPL) efficiently induced a short-latency AMKL that recapitulated all the features of human AMKL, including megakaryoblast hyperproliferation and maturation block, thrombocytopenia, organomegaly, and extensive fibrosis.
  • Our results establish that concomitant activation of RBPJ (Notch signaling) and MPL (cytokine signaling) transforms cells of the megakaryocytic lineage and suggest that specific targeting of these pathways could be of therapeutic value for human AMKL.

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • COS Scholar Universe. author profiles.
  • KOMP Repository. gene/protein/disease-specific - KOMP Repository (subscription/membership/fee required).
  • Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .
  • SciCrunch. Marmoset Gene list: Data: Gene Annotation .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Genes Dev. 2005 Oct 1;19(19):2331-42 [16166372.001]
  • [Cites] Blood. 2008 Nov 15;112(10):4220-6 [18755984.001]
  • [Cites] Blood. 2005 Nov 15;106(10):3370-3 [16037387.001]
  • [Cites] Cell. 2006 Mar 10;124(5):973-83 [16530044.001]
  • [Cites] Proc Natl Acad Sci U S A. 2006 Feb 28;103(9):3339-44 [16492768.001]
  • [Cites] FEBS Lett. 2006 May 22;580(12):2860-8 [16574107.001]
  • [Cites] Cancer Cell. 2006 Jul;10(1):65-75 [16843266.001]
  • [Cites] Nat Rev Mol Cell Biol. 2006 Sep;7(9):678-89 [16921404.001]
  • [Cites] Blood. 2006 Oct 15;108(8):2770-9 [16804112.001]
  • [Cites] Br J Haematol. 2006 Sep;134(5):453-66 [16856888.001]
  • [Cites] Leukemia. 2006 Nov;20(11):1967-77 [16990763.001]
  • [Cites] Blood. 2006 Nov 15;108(10):3472-6 [16868251.001]
  • [Cites] Cell Mol Life Sci. 2006 Nov;63(21):2460-76 [16909203.001]
  • [Cites] Blood. 2000 Mar 1;95(5):1633-41 [10688818.001]
  • [Cites] Blood. 2001 Apr 1;97(7):2023-30 [11264167.001]
  • [Cites] Mol Cell Biol. 2001 Apr;21(8):2659-70 [11283246.001]
  • [Cites] Proc Natl Acad Sci U S A. 2001 May 8;98(10):5776-9 [11344311.001]
  • [Cites] Blood. 2001 Jun 15;97(12):3727-32 [11389009.001]
  • [Cites] Nat Genet. 2001 Jul;28(3):220-1 [11431691.001]
  • [Cites] Genes Chromosomes Cancer. 2002 Jan;33(1):22-8 [11746984.001]
  • [Cites] Oncogene. 2002 May 13;21(21):3359-67 [12032774.001]
  • [Cites] J Clin Invest. 2002 Jun;109(12):1579-85 [12070305.001]
  • [Cites] Blood. 2002 Jul 15;100(2):618-26 [12091356.001]
  • [Cites] Nat Genet. 2002 Sep;32(1):148-52 [12172547.001]
  • [Cites] EMBO J. 2002 Oct 15;21(20):5417-26 [12374742.001]
  • [Cites] Mol Cell Biol. 2003 Jan;23(2):655-64 [12509463.001]
  • [Cites] Proc Natl Acad Sci U S A. 2003 Jan 7;100(1):205-10 [12490656.001]
  • [Cites] Immunity. 2003 Feb;18(2):301-12 [12594956.001]
  • [Cites] Br J Haematol. 2003 Mar;120(6):930-8 [12648061.001]
  • [Cites] Cell. 2003 May 2;113(3):329-42 [12732141.001]
  • [Cites] Am J Hematol. 2003 Jun;73(2):71-80 [12749007.001]
  • [Cites] Genes Dev. 2003 Aug 1;17(15):1909-20 [12897056.001]
  • [Cites] Biostatistics. 2003 Apr;4(2):249-64 [12925520.001]
  • [Cites] Semin Cancer Biol. 2004 Oct;14(5):387-96 [15288264.001]
  • [Cites] Genome Biol. 2004;5(10):R80 [15461798.001]
  • [Cites] Science. 2004 Oct 8;306(5694):269-71 [15472075.001]
  • [Cites] Blood. 1992 Jun 15;79(12):3325-30 [1596573.001]
  • [Cites] Blood. 1999 Aug 15;94(4):1273-82 [10438715.001]
  • [Cites] Growth Factors. 2004 Sep;22(3):151-5 [15518238.001]
  • [Cites] Nat Immunol. 2005 Mar;6(3):314-22 [15665828.001]
  • [Cites] Nature. 2005 Apr 28;434(7037):1144-8 [15793561.001]
  • [Cites] Nat Genet. 2005 Jun;37(6):613-9 [15895080.001]
  • [Cites] PLoS Med. 2006 Jul;3(7):e270 [16834459.001]
  • [Cites] Curr Opin Genet Dev. 2007 Feb;17(1):52-9 [17178457.001]
  • [Cites] Proc Natl Acad Sci U S A. 2007 Jan 30;104(5):1610-5 [17242367.001]
  • [Cites] Mol Cell Biol. 2007 Apr;27(8):3056-64 [17283045.001]
  • [Cites] Proc Natl Acad Sci U S A. 2007 Apr 3;104(14):6001-6 [17376872.001]
  • [Cites] Immunity. 2007 Jul;27(1):100-10 [17658278.001]
  • [Cites] Immunity. 2007 Jul;27(1):89-99 [17658279.001]
  • [Cites] Stem Cells. 2008 Mar;26(3):621-9 [18055448.001]
  • [Cites] Cell Stem Cell. 2008 Sep 11;3(3):314-26 [18786418.001]
  • [Cites] Mol Cell Biol. 2008 Oct;28(20):6302-13 [18694962.001]
  • [Cites] Mol Cell Biol. 2008 Oct;28(20):6171-81 [18710951.001]
  • [Cites] Cell Stem Cell. 2007 Nov;1(5):541-54 [18345353.001]
  • [Cites] Proc Natl Acad Sci U S A. 2005 Oct 25;102(43):15545-50 [16199517.001]
  • (PMID = 19287095.001).
  • [ISSN] 1558-8238
  • [Journal-full-title] The Journal of clinical investigation
  • [ISO-abbreviation] J. Clin. Invest.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA66996; United States / NCI NIH HHS / CA / U01 CA105423; United States / NIDDK NIH HHS / DK / DK50654; United States / NCI NIH HHS / CA / P01 CA066996; United States / NCI NIH HHS / CA / K08 CA111399; United States / NIDDK NIH HHS / DK / P01 DK050654
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Immunoglobulin J Recombination Signal Sequence-Binding Protein; 0 / Mpl protein, mouse; 0 / OTT-MAL fusion protein, human; 0 / Oncogene Proteins, Fusion; 0 / Rbpj protein, mouse; 0 / Receptors, Notch; 0 / Receptors, Thrombopoietin
  • [Other-IDs] NLM/ PMC2662544
  •  go-up   go-down


78. Cabelof DC, Patel HV, Chen Q, van Remmen H, Matherly LH, Ge Y, Taub JW: Mutational spectrum at GATA1 provides insights into mutagenesis and leukemogenesis in Down syndrome. Blood; 2009 Sep 24;114(13):2753-63
COS Scholar Universe. author profiles.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Down syndrome (DS) children have a unique genetic susceptibility to develop leukemia, in particular, acute megakaryocytic leukemia (AMkL) associated with somatic GATA1 mutations.
  • The study of this genetic susceptibility with the use of DS as a model of leukemogenesis has broad applicability to the understanding of leukemia in children overall.
  • On the basis of the role of GATA1 mutations in DS AMkL, we analyzed the mutational spectrum of GATA1 mutations to begin elucidating possible mechanisms by which these sequence alterations arise.
  • Furthermore, DNA repair capacity evaluated in DS and non-DS patient samples provided evidence that the base excision repair pathway is compromised in DS tissues, suggesting that inability to repair DNA damage also may play a critical role in the unique susceptibility of DS children to develop leukemia.

  • Genetic Alliance. consumer health - Down Syndrome.
  • Genetics Home Reference. consumer health - GATA1 gene.
  • MedlinePlus Health Information. consumer health - Down Syndrome.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Neurology. 2003 Aug 26;61(4):475-8 [12939420.001]
  • [Cites] Neurology. 2003 Aug 26;61(4):436-7 [12939413.001]
  • [Cites] Blood. 2003 Oct 15;102(8):2960-8 [12816863.001]
  • [Cites] Blood. 2004 Jan 1;103(1):366 [14684662.001]
  • [Cites] Am J Physiol Regul Integr Comp Physiol. 2004 Jul;287(1):R39-46 [15016621.001]
  • [Cites] Blood. 2004 Sep 1;104(5):1588-9 [15317736.001]
  • [Cites] J Clin Invest. 1970 Jan;49(1):161-9 [4188267.001]
  • [Cites] Pediatr Res. 1980 Apr;14(4 Pt 1):336-8 [6445538.001]
  • [Cites] Br J Haematol. 1981 Nov;49(3):355-60 [6170307.001]
  • [Cites] J Bacteriol. 1982 Aug;151(2):750-5 [7047496.001]
  • [Cites] J Bacteriol. 1985 Jun;162(3):859-64 [3888966.001]
  • [Cites] Toxicol Appl Pharmacol. 1986 Apr;83(2):331-41 [2938307.001]
  • [Cites] Mutat Res. 1986 Aug;162(1):7-20 [2941682.001]
  • [Cites] Lancet. 1986 Oct 18;2(8512):914 [2876340.001]
  • [Cites] Eur J Pediatr. 1987 Jul;146(4):416-22 [2958283.001]
  • [Cites] Mol Gen Genet. 1987 Aug;209(1):78-82 [3312959.001]
  • [Cites] Biochemistry. 1990 Mar 13;29(10):2532-7 [2185829.001]
  • [Cites] J Bacteriol. 1991 Nov;173(21):6807-10 [1938887.001]
  • [Cites] Leuk Res. 1994 Mar;18(3):163-71 [8139285.001]
  • [Cites] Methods Enzymol. 1994;233:163-74 [8015454.001]
  • [Cites] Br J Haematol. 1995 Mar;89(3):678-80 [7734380.001]
  • [Cites] Nucleic Acids Res. 1995 Aug 25;23(16):3224-30 [7545284.001]
  • [Cites] Mech Ageing Dev. 1998 Jan 12;100(1):85-101 [9509398.001]
  • [Cites] Genetics. 1998 Apr;148(4):1475-82 [9560367.001]
  • [Cites] Mutat Res. 1998 Jul 17;403(1-2):35-43 [9726004.001]
  • [Cites] Blood. 1999 Aug 15;94(4):1393-400 [10438727.001]
  • [Cites] J Natl Cancer Inst. 2005 Feb 2;97(3):226-31 [15687366.001]
  • [Cites] Oncogene. 2005 Feb 17;24(8):1328-37 [15608683.001]
  • [Cites] EMBO J. 2005 Jun 15;24(12):2205-13 [15902269.001]
  • [Cites] Hum Mutat. 2005 Sep;26(3):205-13 [16086312.001]
  • [Cites] Environ Mol Mutagen. 2006 Jan;47(1):31-7 [16106443.001]
  • [Cites] Biogerontology. 2006 Aug;7(4):211-20 [16612664.001]
  • [Cites] Clin Biochem. 2007 Feb;40(3-4):177-80 [17208212.001]
  • [Cites] Clin Biochem. 2007 May;40(8):567-70 [17321511.001]
  • [Cites] Lancet. 2008 Oct 25;372(9648):1484-92 [18805579.001]
  • [Cites] Br J Haematol. 2008 Oct;143(2):300-3 [18699852.001]
  • [Cites] Blood. 2008 Dec 1;112(12):4507-11 [18689547.001]
  • [Cites] Biochemistry. 2000 Oct 24;39(42):13005-11 [11041866.001]
  • [Cites] Ann Neurol. 2000 Nov;48(5):795-8 [11079545.001]
  • [Cites] J Neurochem. 2001 Feb;76(4):957-65 [11181815.001]
  • [Cites] J Pediatr Hematol Oncol. 2001 Mar-Apr;23(3):175-8 [11305722.001]
  • [Cites] Ultrasound Obstet Gynecol. 2001 May;17(5):403-9 [11380964.001]
  • [Cites] Am J Hum Genet. 2001 Jul;69(1):88-95 [11391481.001]
  • [Cites] Free Radic Biol Med. 2001 Aug 15;31(4):499-508 [11498283.001]
  • [Cites] Biol Trace Elem Res. 2001 Jul;81(1):21-8 [11508329.001]
  • [Cites] Blood. 2002 Apr 15;99(8):2992-6 [11929791.001]
  • [Cites] Nat Genet. 2002 Sep;32(1):148-52 [12172547.001]
  • [Cites] Br J Haematol. 2003 Mar;120(6):930-8 [12648061.001]
  • [Cites] Lancet. 2003 May 10;361(9369):1617-20 [12747884.001]
  • [Cites] Blood. 2003 Jun 1;101(11):4298-300 [12560215.001]
  • [Cites] Blood. 2003 Jun 1;101(11):4301-4 [12586620.001]
  • [Cites] Ultrasound Obstet Gynecol. 2003 May;21(5):486-9 [12768562.001]
  • [Cites] Blood. 2003 Aug 1;102(3):981-6 [12649131.001]
  • [Cites] Cancer Res. 2003 Sep 15;63(18):5799-807 [14522902.001]
  • (PMID = 19633202.001).
  • [ISSN] 1528-0020
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / R01 CA092308; United States / NCI NIH HHS / CA / R01-CA120772; United States / NCI NIH HHS / CA / R01-CA92308; United States / NIEHS NIH HHS / ES / P30 ES06639; United States / NIEHS NIH HHS / ES / P30 ES006639; United States / NCI NIH HHS / CA / R01 CA120772
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human; EC 4.2.1.22 / Cystathionine beta-Synthase
  • [Other-IDs] NLM/ PMC2756130
  •  go-up   go-down


79. Kim IS, Park ES, Lim JY, Ki CS, Chi HS: A novel mutation in the GATA1 gene associated with acute megakaryoblastic leukemia in a Korean Down syndrome patient. J Korean Med Sci; 2008 Dec;23(6):1105-8
MedlinePlus Health Information. consumer health - Down Syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A novel mutation in the GATA1 gene associated with acute megakaryoblastic leukemia in a Korean Down syndrome patient.
  • Although acquired mutations in the GATA1 gene have been reported for Down syndrome-related acute megakaryoblastic leukemia (DS-AMKL) in Caucasians, this is the first report of a Korean Down syndrome patient with AMKL carrying a novel mutation of the GATA1 gene.
  • The findings of a peripheral blood smear and bone marrow study were compatible with the presence of AMKL.
  • This case demonstrates that a leukemogenic mechanism for DS-AMKL is contributed by a unique collaboration between overexpressed genes from trisomy 21 and an acquired GATA1 mutation previously seen in Caucasians and now in a Korean patient.
  • [MeSH-major] Down Syndrome / genetics. GATA1 Transcription Factor / genetics. Leukemia, Megakaryoblastic, Acute / genetics. Mutation

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • Genetic Alliance. consumer health - Down Syndrome.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Blood. 2000 Oct 15;96(8):2862-9 [11023523.001]
  • [Cites] Blood Cells Mol Dis. 2007 Sep-Oct;39(2):156-9 [17532652.001]
  • [Cites] Nat Genet. 2002 Sep;32(1):148-52 [12172547.001]
  • [Cites] Blood. 2003 Jun 1;101(11):4333-41 [12576332.001]
  • [Cites] Blood. 2003 Jun 1;101(11):4301-4 [12586620.001]
  • [Cites] Blood. 2003 Aug 1;102(3):981-6 [12649131.001]
  • [Cites] Blood Cells Mol Dis. 2003 Nov-Dec;31(3):351-6 [14636651.001]
  • [Cites] Blood. 2004 Apr 1;103(7):2480-9 [14656875.001]
  • [Cites] Pediatr Hematol Oncol. 1992 Apr-Jun;9(2):139-49 [1388043.001]
  • [Cites] Pediatr Blood Cancer. 2005 Jan;44(1):85-91 [15390279.001]
  • [Cites] Pediatr Blood Cancer. 2005 Jan;44(1):40-4 [15390312.001]
  • [Cites] J Pediatr Hematol Oncol. 2005 Jan;27(1):50-2 [15654280.001]
  • [Cites] Cancer Res. 2005 Sep 1;65(17):7596-602 [16140924.001]
  • [Cites] Leuk Res. 2005 Nov;29(11):1353-6 [15916804.001]
  • [Cites] Cancer Genet Cytogenet. 2006 Apr 15;166(2):112-6 [16631466.001]
  • [Cites] Leukemia. 2006 Jun;20(6):1002-8 [16628190.001]
  • [Cites] Curr Opin Pediatr. 2007 Feb;19(1):9-14 [17224656.001]
  • [Cites] Int J Hematol. 2001 Oct;74(3):245-51 [11721958.001]
  • (PMID = 19119459.001).
  • [ISSN] 1011-8934
  • [Journal-full-title] Journal of Korean medical science
  • [ISO-abbreviation] J. Korean Med. Sci.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Korea (South)
  • [Chemical-registry-number] 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human
  • [Other-IDs] NLM/ PMC2610649
  • [Keywords] NOTNLM ; Down Syndrome / GATA1 Transcription Factor / Korea / Leukemia, Megakaryoblastic, Acute
  •  go-up   go-down


80. Bozkurt SU, Berrak SG, Tugtepe H, Canpolat C, Palanduz S, Tecimer T: Acute megakaryoblastic leukemia mimicking small round cell tumor with novel t(1;5)(q21;p13). APMIS; 2008 Feb;116(2):163-6
COS Scholar Universe. author profiles.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Acute megakaryoblastic leukemia mimicking small round cell tumor with novel t(1;5)(q21;p13).
  • Acute megakaryoblastic leukemia is a relatively rare form of acute leukemia that has heterogeneous blast morphology and karyotypic abnormalities.
  • An 8-month-old boy with a retroperitoneal mass was diagnosed as having acute megakaryoblastic leukemia that initially presented as small round cell tumor of childhood.
  • [MeSH-major] Chromosomes, Human, Pair 1. Chromosomes, Human, Pair 5. Leukemia, Megakaryoblastic, Acute / genetics. Retroperitoneal Neoplasms / genetics. Translocation, Genetic

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 18321370.001).
  • [ISSN] 0903-4641
  • [Journal-full-title] APMIS : acta pathologica, microbiologica, et immunologica Scandinavica
  • [ISO-abbreviation] APMIS
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Denmark
  • [Chemical-registry-number] 9001-27-8 / Factor VIII
  •  go-up   go-down


81. Marques-Salles Tde J, Mkrtchyan H, Leite EP, Soares-Ventura EM, Muniz MT, Silva EF, Liehr T, Silva ML, Santos N: Complex karyotype defined by molecular cytogenetic FISH and M-FISH in an infant with acute megakaryoblastic leukemia and neurofibromatosis. Cancer Genet Cytogenet; 2010 Jul 15;200(2):167-9
NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Complex karyotype defined by molecular cytogenetic FISH and M-FISH in an infant with acute megakaryoblastic leukemia and neurofibromatosis.
  • Acute myeloid leukemia in childhood is a heterogeneous group of diseases, and different epidemiologic factors are involved in the etiopathogenesis.
  • Genetic syndromes are one of the predisposing factors of acute myeloid leukemia (AML), including Down syndrome, Bloom syndrome, and neurofibromatosis.
  • Acute megakaryoblastic leukemia (AMKL) is the main subtype in Down syndrome infants, and acquired chromosomal anomalies are closely related to the physiopathology of the illness.
  • The main chromosomal anomalies in AMKL are structural, such as t(1;22); however, complex karyotypes are also common.
  • Here we describe the case of an infant with neurofibromatosis developing AMKL with a complex karyotype including 5q and 17q deletions, TP53 deletion, and an unusual unbalanced chromosomal translocation t(11;19)(q13;p13), leading to three copies of the MLL gene.
  • [MeSH-major] In Situ Hybridization, Fluorescence / methods. Leukemia, Megakaryoblastic, Acute / genetics. Neurofibromatoses / genetics
  • [MeSH-minor] Female. Genes, p53. Histone-Lysine N-Methyltransferase. Humans. Infant. Karyotyping. Myeloid-Lymphoid Leukemia Protein / genetics

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • Genetic Alliance. consumer health - Neurofibromatosis.
  • MedlinePlus Health Information. consumer health - Neurofibromatosis.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Copyright] Copyright (c) 2010 Elsevier Inc. All rights reserved.
  • (PMID = 20620601.001).
  • [ISSN] 1873-4456
  • [Journal-full-title] Cancer genetics and cytogenetics
  • [ISO-abbreviation] Cancer Genet. Cytogenet.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / MLL protein, human; 149025-06-9 / Myeloid-Lymphoid Leukemia Protein; EC 2.1.1.43 / Histone-Lysine N-Methyltransferase
  •  go-up   go-down


82. Shimizu R, Engel JD, Yamamoto M: GATA1-related leukaemias. Nat Rev Cancer; 2008 Apr;8(4):279-87
Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] GATA1-related leukaemias.
  • GATA1 is a prototypical lineage-restricted transcription factor that is central to the correct differentiation, proliferation and apoptosis of erythroid and megakaryocytic cells.
  • Mutations in GATA1 can generate a truncated protein, which contributes to the genesis of transient myeloproliferative disorder (TMD) and acute megakaryoblastic leukaemia (AMKL) in infants with Down syndrome.
  • Similarly, Gata1 knockdown to 5% of its wild-type level causes high incidence of erythroid leukaemia in mice.
  • The GATA1-related leukaemias in both human and mouse could provide important insights into the mechanism of multi-step leukaemogenesis.
  • Efforts are afoot to produce mouse models that are reflective of TMD and AMKL.
  • [MeSH-major] GATA1 Transcription Factor / physiology. Leukemia, Megakaryoblastic, Acute / metabolism. Myeloproliferative Disorders / metabolism
  • [MeSH-minor] Animals. Disease Progression. Humans. Mice

  • Genetics Home Reference. consumer health - GATA1 gene.
  • COS Scholar Universe. author profiles.
  • KOMP Repository. gene/protein/disease-specific - KOMP Repository (subscription/membership/fee required).
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 18354416.001).
  • [ISSN] 1474-1768
  • [Journal-full-title] Nature reviews. Cancer
  • [ISO-abbreviation] Nat. Rev. Cancer
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / GATA1 Transcription Factor
  • [Number-of-references] 93
  •  go-up   go-down


83. Hitzler JK, Zipursky A: Origins of leukaemia in children with Down syndrome. Nat Rev Cancer; 2005 Jan;5(1):11-20
COS Scholar Universe. author profiles.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Origins of leukaemia in children with Down syndrome.
  • Transient megakaryoblastic leukaemia is found in 10% of newborns with Down syndrome, characterized by constitutional trisomy 21.
  • Although in most cases the leukaemic cells disappear spontaneously after the first months of life, irreversible acute megakaryoblastic leukaemia develops in 20% of these individuals within 4 years.
  • The leukaemic cells typically harbour somatic mutations of the gene encoding GATA1, an essential transcriptional regulator of normal megakaryocytic differentiation.
  • Leukaemia that specifically arises in the context of constitutional trisomy 21 and somatic GATA1 mutations is a unique biological model of the incremental process of leukaemic transformation.
  • [MeSH-major] Down Syndrome / complications. Leukemia, Megakaryoblastic, Acute / etiology

  • Genetic Alliance. consumer health - Down Syndrome.
  • MedlinePlus Health Information. consumer health - Down Syndrome.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 15630411.001).
  • [ISSN] 1474-175X
  • [Journal-full-title] Nature reviews. Cancer
  • [ISO-abbreviation] Nat. Rev. Cancer
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / DNA-Binding Proteins; 0 / Erythroid-Specific DNA-Binding Factors; 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human; 0 / Transcription Factors
  • [Number-of-references] 113
  •  go-up   go-down


84. Xavier AC, Ge Y, Taub JW: Down syndrome and malignancies: a unique clinical relationship: a paper from the 2008 william beaumont hospital symposium on molecular pathology. J Mol Diagn; 2009 Sep;11(5):371-80
MedlinePlus Health Information. consumer health - Down Syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • DS children have a approximately 10- to 20-fold higher risk for developing acute lymphoblastic leukemia and acute myeloid leukemia (AML), as compared with non-DS children, although they do not have a uniformly increased risk of developing solid tumors.
  • DS children with acute lymphoblastic leukemia frequently experience higher levels of treatment-related toxicity and inferior event-free survival rates, as compared with non-DS children.
  • DS children also develop AML with unique features and have a 500-fold increased risk of developing the AML subtype, acute megakaryocytic leukemia (AMkL; M7).
  • Nearly 10% of DS newborns are diagnosed with a variant of AMkL, the transient myeloproliferative disorder, which can resolve spontaneously without treatment; event-free survival rates for DS patients with AMkL ranges from 80% to 100%, in comparison with <30% for non-DS children with AMkL.
  • In addition, somatic mutations of the GATA1 gene have been detected in nearly all DS TMD and AMkL cases and not in leukemia cases in non-DS children.
  • GATA1 mutations are key factors linked to both leukemogenesis and the high cure rates of DS AMkL patients.
  • Identifying the mechanisms that account for the high event-free survival rates of DS AMkL patients may ultimately improve AML treatment as well.
  • Examining leukemogenesis in DS children may identify factors linked to the general development of childhood leukemia and lead to potential new therapeutic strategies to fight this disease.
  • [MeSH-minor] Animals. Disease-Free Survival. GATA1 Transcription Factor / genetics. Humans. Leukemia, Megakaryoblastic, Acute / epidemiology. Leukemia, Megakaryoblastic, Acute / etiology. Leukemia, Megakaryoblastic, Acute / genetics. Leukemia, Myeloid, Acute / epidemiology. Leukemia, Myeloid, Acute / etiology. Leukemia, Myeloid, Acute / genetics. Precursor Cell Lymphoblastic Leukemia-Lymphoma / epidemiology. Precursor Cell Lymphoblastic Leukemia-Lymphoma / etiology. Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics

  • Genetic Alliance. consumer health - Down Syndrome.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Haematologica. 2008 Aug;93(8):1262-3 [18519512.001]
  • [Cites] Br J Haematol. 2008 Aug;142(4):610-5 [18510680.001]
  • [Cites] Cancer Epidemiol Biomarkers Prev. 2008 Oct;17(10):2572-7 [18829445.001]
  • [Cites] Leukemia. 2008 Oct;22(10):1813-7 [18754026.001]
  • [Cites] Lancet. 2008 Oct 25;372(9648):1484-92 [18805579.001]
  • [Cites] Pediatr Blood Cancer. 2009 Jan;52(1):14-9 [18802938.001]
  • [Cites] Blood. 2008 Dec 1;112(12):4507-11 [18689547.001]
  • [Cites] Blood. 2008 Dec 1;112(12):4503-6 [18812473.001]
  • [Cites] Eur J Haematol. 2009 Jan;82(1):46-53 [19067745.001]
  • [Cites] Blood. 2009 Jan 15;113(3):646-8 [18927438.001]
  • [Cites] Blood. 2008 Feb 1;111(3):1575-83 [17971484.001]
  • [Cites] Blood. 2002 Jan 1;99(1):245-51 [11756178.001]
  • [Cites] Leuk Res. 1994 Mar;18(3):163-71 [8139285.001]
  • [Cites] Med Pediatr Oncol. 1995 May;24(5):305-9 [7700182.001]
  • [Cites] Blood. 1996 Apr 15;87(8):3395-403 [8605357.001]
  • [Cites] N Engl J Med. 1996 May 30;334(22):1428-34 [8618581.001]
  • [Cites] Med Hypotheses. 1996 Apr;46(4):393-9 [8733171.001]
  • [Cites] Eur J Hum Genet. 2001 Nov;9(11):811-4 [11781696.001]
  • [Cites] Int J Hematol. 2001 Dec;74(4):428-36 [11794699.001]
  • [Cites] Hum Mol Genet. 2002 Jan 15;11(2):147-52 [11809723.001]
  • [Cites] Bull Acad Natl Med. 2001;185(7):1239-52; discussion 1252-4 [11975321.001]
  • [Cites] Nat Genet. 2002 Sep;32(1):148-52 [12172547.001]
  • [Cites] Leukemia. 2003 Feb;17(2):277-82 [12592323.001]
  • [Cites] Br J Haematol. 2003 Mar;120(6):930-8 [12648061.001]
  • [Cites] Am J Clin Oncol. 2003 Apr;26(2):197-9 [12714896.001]
  • [Cites] Blood. 2003 Jun 1;101(11):4301-4 [12586620.001]
  • [Cites] Blood. 2003 Aug 1;102(3):981-6 [12649131.001]
  • [Cites] J Clin Oncol. 2003 Sep 15;21(18):3415-22 [12885836.001]
  • [Cites] Blood. 2004 Jan 1;103(1):366 [14684662.001]
  • [Cites] Cancer Res. 2004 Jan 15;64(2):728-35 [14744791.001]
  • [Cites] Blood. 2004 Apr 1;103(7):2480-9 [14656875.001]
  • [Cites] Leuk Lymphoma. 2004 Jan;45(1):19-25 [15061193.001]
  • [Cites] Blood. 2004 Sep 1;104(5):1588-9 [15317736.001]
  • [Cites] Lancet. 1986 Oct 18;2(8512):914 [2876340.001]
  • [Cites] Eur J Pediatr. 1987 Jul;146(4):416-22 [2958283.001]
  • [Cites] Am J Med Genet Suppl. 1990;7:204-12 [2149949.001]
  • [Cites] Br J Cancer. 1991 Jun;63(6):993-9 [2069856.001]
  • [Cites] Blood. 1992 Nov 1;80(9):2210-4 [1384797.001]
  • [Cites] Pathol Res Pract. 1996 Dec;192(12):1266-9 [9182298.001]
  • [Cites] Cell. 1997 Jul 11;90(1):109-19 [9230307.001]
  • [Cites] EMBO J. 1997 Jul 1;16(13):3965-73 [9233806.001]
  • [Cites] Blood. 1998 Jan 15;91(2):608-15 [9427716.001]
  • [Cites] Cancer Res. 1998 Feb 1;58(3):448-52 [9458088.001]
  • [Cites] Blood. 1999 Aug 15;94(4):1393-400 [10438727.001]
  • [Cites] J Biol Chem. 2004 Nov 26;279(48):50537-54 [15448146.001]
  • [Cites] Br J Cancer. 2004 Nov 29;91(11):1866-72 [15520821.001]
  • [Cites] Pediatr Blood Cancer. 2005 Jan;44(1):21-8 [15368546.001]
  • [Cites] Pediatr Blood Cancer. 2005 Jan;44(1):33-9 [15390307.001]
  • [Cites] Semin Cell Dev Biol. 2005 Feb;16(1):137-47 [15659348.001]
  • [Cites] J Natl Cancer Inst. 2005 Feb 2;97(3):226-31 [15687366.001]
  • [Cites] Br J Haematol. 2005 Mar;128(6):797-804 [15755283.001]
  • [Cites] Nat Genet. 2005 Jun;37(6):613-9 [15895080.001]
  • [Cites] Cancer. 2005 Jul 15;104(2):405-10 [15952191.001]
  • [Cites] Pediatr Hematol Oncol. 2005 Apr-May;22(3):229-34 [16020107.001]
  • [Cites] Leukemia. 2005 Aug;19(8):1355-60 [15920490.001]
  • [Cites] Leuk Res. 2005 Nov;29(11):1353-6 [15916804.001]
  • [Cites] Ophthalmic Genet. 2005 Sep;26(3):151-2 [16272063.001]
  • [Cites] Blood. 2005 Dec 15;106(13):4043-9 [16109782.001]
  • [Cites] J Pediatr. 2005 Dec;147(6):748-52 [16356424.001]
  • [Cites] MMWR Morb Mortal Wkly Rep. 2006 Jan 6;54(51):1301-5 [16397457.001]
  • [Cites] Leukemia. 2006 Feb;20(2):381-3 [16341038.001]
  • [Cites] Br J Haematol. 2006 Mar;132(5):576-83 [16445830.001]
  • [Cites] Blood. 2006 Feb 15;107(4):1570-81 [16249385.001]
  • [Cites] Proc Natl Acad Sci U S A. 2006 Feb 28;103(9):3339-44 [16492768.001]
  • [Cites] Br J Haematol. 2006 Jun;133(6):646-8 [16704441.001]
  • [Cites] J Pediatr. 2006 May;148(5):687-9 [16737888.001]
  • [Cites] Blood. 2006 Jun 15;107(12):4606-13 [16469874.001]
  • [Cites] Pediatrics. 2006 Nov;118(5):e1499-508 [17030598.001]
  • [Cites] Pediatr Blood Cancer. 2007 Oct 15;49(5):624-8 [17610268.001]
  • [Cites] Blood. 2007 Sep 15;110(6):2128-31 [17576817.001]
  • [Cites] Cancer. 2007 Nov 1;110(9):2067-74 [17849462.001]
  • [Cites] J Clin Oncol. 2007 Dec 1;25(34):5442-7 [18048827.001]
  • [Cites] Nature. 2008 Jan 3;451(7174):73-5 [18172498.001]
  • [Cites] J Clin Oncol. 2008 Jan 20;26(3):414-20 [18202418.001]
  • [Cites] Lancet. 2000 Jan 15;355(9199):165-9 [10675114.001]
  • [Cites] Leukemia. 2000 May;14(5):943-4 [10803530.001]
  • [Cites] J Pediatr Hematol Oncol. 2001 Mar-Apr;23(3):175-8 [11305722.001]
  • [Cites] Blood. 2001 Jun 15;97(12):3727-32 [11389009.001]
  • [Cites] Blood. 2001 Jul 1;98(1):85-92 [11418466.001]
  • [Cites] Prog Nucleic Acid Res Mol Biol. 2001;67:131-62 [11525381.001]
  • [Cites] Blood. 2001 Nov 1;98(9):2681-8 [11675338.001]
  • [Cites] Blood. 2008 Mar 15;111(6):2991-8 [18182574.001]
  • [Cites] Lancet. 2008 Mar 22;371(9617):1030-43 [18358930.001]
  • [Cites] Leukemia. 2008 Jul;22(7):1428-30 [18059480.001]
  • [Cites] Cancer. 2008 Aug 1;113(3):515-21 [18521927.001]
  • (PMID = 19710397.001).
  • [ISSN] 1943-7811
  • [Journal-full-title] The Journal of molecular diagnostics : JMD
  • [ISO-abbreviation] J Mol Diagn
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / R01 CA120772
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human
  • [Number-of-references] 87
  • [Other-IDs] NLM/ PMC2729834
  •  go-up   go-down


85. Klusmann JH, Li Z, Böhmer K, Maroz A, Koch ML, Emmrich S, Godinho FJ, Orkin SH, Reinhardt D: miR-125b-2 is a potential oncomiR on human chromosome 21 in megakaryoblastic leukemia. Genes Dev; 2010 Mar 1;24(5):478-90
The Lens. Cited by Patents in .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] miR-125b-2 is a potential oncomiR on human chromosome 21 in megakaryoblastic leukemia.
  • Children with trisomy 21/Down syndrome (DS) are at high risk to develop acute megakaryoblastic leukemia (DS-AMKL) and the related transient leukemia (DS-TL).
  • Here, we investigated the role of Hsa21-encoded miR-125b-2, a microRNA (miRNA) overexpressed in DS-AMKL/TL, in hematopoiesis and leukemogenesis.
  • We identified a function of miR-125b-2 in increasing proliferation and self-renewal of human and mouse megakaryocytic progenitors (MPs) and megakaryocytic/erythroid progenitors (MEPs).
  • miR-125b-2 overexpression did not affect megakaryocytic and erythroid differentiation, but severely perturbed myeloid differentiation.
  • The proproliferative effect of miR-125b-2 on MEPs accentuated the Gata1s mutation, whereas growth of DS-AMKL/TL cells was impaired upon miR-125b repression, suggesting synergism during leukemic transformation in GATA1s-mutated DS-AMKL/TL.
  • Gene Set Enrichment Analysis revealed that this target gene set is down-regulated in DS-AMKL patients highly expressing miR-125b.
  • Thus, we propose miR-125b-2 as a positive regulator of megakaryopoiesis and an oncomiR involved in the pathogenesis of trisomy 21-associated megakaryoblastic leukemia.
  • [MeSH-major] Chromosomes, Human, Pair 21 / genetics. Gene Expression Regulation, Leukemic. Leukemia, Megakaryoblastic, Acute / metabolism. MicroRNAs / metabolism

  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Proc Natl Acad Sci U S A. 2001 Jan 2;98(1):31-6 [11134512.001]
  • [Cites] Cancer Cell. 2007 Dec;12(6):542-58 [18068631.001]
  • [Cites] Nat Genet. 2002 Sep;32(1):148-52 [12172547.001]
  • [Cites] Blood. 2003 Apr 15;101(8):3229-35 [12515728.001]
  • [Cites] Genome Biol. 2003;4(5):P3 [12734009.001]
  • [Cites] Blood. 2003 Jun 1;101(11):4298-300 [12560215.001]
  • [Cites] Blood. 2003 Jun 1;101(11):4333-41 [12576332.001]
  • [Cites] Proc Natl Acad Sci U S A. 2007 Dec 11;104(50):19983-8 [18056640.001]
  • [Cites] Biochem Biophys Res Commun. 2008 Apr 4;368(2):267-72 [18230348.001]
  • [Cites] Nature. 2008 Feb 28;451(7182):1125-9 [18278031.001]
  • [Cites] Blood. 2008 Mar 15;111(6):2991-8 [18182574.001]
  • [Cites] Science. 2008 Apr 4;320(5872):97-100 [18292307.001]
  • [Cites] Dev Cell. 2008 Jun;14(6):843-53 [18539114.001]
  • [Cites] Proc Natl Acad Sci U S A. 2008 Sep 30;105(39):14879-84 [18812516.001]
  • [Cites] J Exp Med. 2008 Oct 27;205(11):2499-506 [18936236.001]
  • [Cites] FASEB J. 2008 Nov;22(11):3956-67 [18676404.001]
  • [Cites] Carcinogenesis. 2008 Nov;29(11):2073-7 [18700235.001]
  • [Cites] Blood. 2008 Dec 1;112(12):4507-11 [18689547.001]
  • [Cites] Blood. 2008 Dec 1;112(12):4503-6 [18812473.001]
  • [Cites] Nat Med. 2009 Feb;15(2):151-8 [19182797.001]
  • [Cites] Cell. 2009 Feb 20;136(4):642-55 [19239886.001]
  • [Cites] Blood. 2009 Mar 19;113(12):2619-28 [19139078.001]
  • [Cites] Genes Dev. 2009 Apr 1;23(7):862-76 [19293287.001]
  • [Cites] Blood. 2009 Apr 2;113(14):3337-47 [19168790.001]
  • [Cites] Cancer Res. 2009 Jun 1;69(11):4665-73 [19487285.001]
  • [Cites] Genes Dev. 2009 Dec 1;23(23):2700-4 [19903759.001]
  • [Cites] Science. 2004 Jan 2;303(5654):83-6 [14657504.001]
  • [Cites] Leuk Res. 1984;8(2):197-206 [6232432.001]
  • [Cites] Immunity. 1999 Sep;11(3):299-308 [10514008.001]
  • [Cites] Oncogene. 2004 Dec 9;23(57):9295-302 [15489893.001]
  • [Cites] Cell. 2005 Jan 14;120(1):15-20 [15652477.001]
  • [Cites] Cancer Sci. 2005 Feb;96(2):111-5 [15723655.001]
  • [Cites] J Biol Chem. 2005 Apr 29;280(17):16635-41 [15722555.001]
  • [Cites] Nat Genet. 2005 Jun;37(6):613-9 [15895080.001]
  • [Cites] Nature. 2005 Jun 9;435(7043):828-33 [15944707.001]
  • [Cites] Nature. 2005 Jun 9;435(7043):834-8 [15944708.001]
  • [Cites] Cancer Res. 2005 Sep 1;65(17):7596-602 [16140924.001]
  • [Cites] Leukemia. 2005 Nov;19(11):2009-10 [16151463.001]
  • [Cites] Proc Natl Acad Sci U S A. 2005 Oct 25;102(43):15545-50 [16199517.001]
  • [Cites] Nat Genet. 2005 Nov;37(11):1289-95 [16200064.001]
  • [Cites] Proc Natl Acad Sci U S A. 2006 Feb 28;103(9):3339-44 [16492768.001]
  • [Cites] Nat Genet. 2006 Jul;38(7):807-12 [16783379.001]
  • [Cites] Blood. 2006 Oct 1;108(7):2198-206 [16757682.001]
  • [Cites] Nat Genet. 2007 Jan;39(1):86-92 [17187068.001]
  • [Cites] J Biol Chem. 2007 Jan 12;282(2):1479-86 [17110380.001]
  • [Cites] Nat Genet. 2007 May;39(5):673-7 [17401365.001]
  • [Cites] Cell. 2007 Jun 29;129(7):1401-14 [17604727.001]
  • [Cites] Mol Cell. 2007 Jul 6;27(1):91-105 [17612493.001]
  • [Cites] Cell. 2007 Oct 5;131(1):146-59 [17923094.001]
  • [Cites] Lancet Oncol. 2001 Jul;2(7):429-36 [11905737.001]
  • (PMID = 20194440.001).
  • [ISSN] 1549-5477
  • [Journal-full-title] Genes & development
  • [ISO-abbreviation] Genes Dev.
  • [Language] eng
  • [Grant] United States / NHLBI NIH HHS / HL / R01 HL032259
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / GATA1 Transcription Factor; 0 / MIRN125 microRNA, human; 0 / MicroRNAs; 0 / Mirn125 microRNA, mouse; 0 / Repressor Proteins; 0 / ST18 protein, human; EC 3.1.26.3 / DICER1 protein, human; EC 3.1.26.3 / Ribonuclease III; EC 3.6.4.13 / DEAD-box RNA Helicases
  • [Other-IDs] NLM/ PMC2827843
  •  go-up   go-down


86. Alford KA, Slender A, Vanes L, Li Z, Fisher EM, Nizetic D, Orkin SH, Roberts I, Tybulewicz VL: Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome. Blood; 2010 Apr 8;115(14):2928-37
The Lens. Cited by Patents in .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Trisomy of human chromosome 21 (Hsa21) results in Down syndrome (DS), a disorder that affects many aspects of physiology, including hematopoiesis.
  • DS children have greatly increased rates of acute lymphoblastic leukemia and acute megakaryoblastic leukemia (AMKL); DS newborns present with transient myeloproliferative disorder (TMD), a preleukemic form of AMKL.
  • TMD and DS-AMKL almost always carry an acquired mutation in GATA1 resulting in exclusive synthesis of a truncated protein (GATA1s), suggesting that both trisomy 21 and GATA1 mutations are required for leukemogenesis.
  • We show that although Tc1 mice do not develop leukemia, they have macrocytic anemia and increased extramedullary hematopoiesis.
  • Introduction of GATA1s into Tc1 mice resulted in a synergistic increase in megakaryopoiesis, but did not result in leukemia or a TMD-like phenotype, demonstrating that GATA1s and trisomy of approximately 80% of Hsa21 perturb megakaryopoiesis but are insufficient to induce leukemia.

  • Genetic Alliance. consumer health - Down Syndrome.
  • MedlinePlus Health Information. consumer health - Down Syndrome.
  • COS Scholar Universe. author profiles.
  • KOMP Repository. gene/protein/disease-specific - KOMP Repository (subscription/membership/fee required).
  • Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Gene. 2003 Oct 30;318:137-47 [14585506.001]
  • [Cites] Blood. 2003 Aug 1;102(3):981-6 [12649131.001]
  • [Cites] Nat Rev Genet. 2004 Oct;5(10):725-38 [15510164.001]
  • [Cites] Am J Med Genet. 1983 Oct;16(2):173-7 [6228141.001]
  • [Cites] Prog Clin Biol Res. 1990;360:263-80 [2147289.001]
  • [Cites] Am J Med Genet. 1993 Jun 15;46(5):510-2 [8322810.001]
  • [Cites] Am J Pediatr Hematol Oncol. 1993 Nov;15(4):392-9 [8214361.001]
  • [Cites] Arch Pediatr Adolesc Med. 1995 Jul;149(7):824-5 [7795778.001]
  • [Cites] Arch Biochem Biophys. 1997 Aug 15;344(2):424-32 [9264557.001]
  • [Cites] Nat Genet. 2005 Jun;37(6):613-9 [15895080.001]
  • [Cites] Ann N Y Acad Sci. 2005 Jun;1044:142-58 [15958708.001]
  • [Cites] Br J Haematol. 2000 Sep;110(3):512-24 [10997960.001]
  • [Cites] Nat Genet. 2002 Sep;32(1):148-52 [12172547.001]
  • [Cites] Lancet. 2003 May 10;361(9369):1617-20 [12747884.001]
  • [Cites] Blood. 2003 Jun 1;101(11):4298-300 [12560215.001]
  • [Cites] Blood. 2003 Jun 1;101(11):4333-41 [12576332.001]
  • [Cites] Blood. 2003 Jun 1;101(11):4301-4 [12586620.001]
  • [Cites] Blood. 2003 Oct 15;102(8):2960-8 [12816863.001]
  • [Cites] Science. 2005 Sep 23;309(5743):2033-7 [16179473.001]
  • [Cites] Proc Natl Acad Sci U S A. 2006 Feb 28;103(9):3339-44 [16492768.001]
  • [Cites] Nat Genet. 2006 Jul;38(7):807-12 [16783379.001]
  • [Cites] Am J Med Genet A. 2007 Jan 1;143A(1):42-50 [17163522.001]
  • [Cites] Blood Cells Mol Dis. 2007 Sep-Oct;39(2):156-9 [17532652.001]
  • [Cites] Blood. 2008 Jan 15;111(2):767-75 [17901249.001]
  • [Cites] J Exp Med. 2008 Mar 17;205(3):585-94 [18299402.001]
  • [Cites] Learn Mem. 2008 Jul;15(7):492-500 [18626093.001]
  • [Cites] Br J Haematol. 2008 Oct;143(2):300-3 [18699852.001]
  • [Cites] Blood. 2008 Dec 1;112(12):4507-11 [18689547.001]
  • [Cites] Blood. 2008 Dec 1;112(12):4503-6 [18812473.001]
  • [Cites] Blood. 2009 Feb 26;113(9):1929-37 [19109561.001]
  • [Cites] Blood. 2009 Mar 19;113(12):2619-28 [19139078.001]
  • [Cites] Hum Mol Genet. 2009 Apr 15;18(8):1449-63 [19181682.001]
  • [Cites] Blood. 2009 Apr 2;113(14):3337-47 [19168790.001]
  • [Cites] Cancer Res. 2009 Jun 1;69(11):4665-73 [19487285.001]
  • [Cites] Blood. 2004 Apr 1;103(7):2480-9 [14656875.001]
  • (PMID = 20154221.001).
  • [ISSN] 1528-0020
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] ENG
  • [Grant] United Kingdom / Medical Research Council / / G0601056; United Kingdom / Medical Research Council / / MC/ U117527252; United States / NHLBI NIH HHS / HL / R01 HL032259; United Kingdom / Medical Research Council / / U117527252
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human; 0 / Gata1 protein, mouse
  • [Other-IDs] NLM/ PMC2854435
  •  go-up   go-down


87. Raffel GD, Mercher T, Shigematsu H, Williams IR, Cullen DE, Akashi K, Bernard OA, Gilliland DG: Ott1(Rbm15) has pleiotropic roles in hematopoietic development. Proc Natl Acad Sci U S A; 2007 Apr 3;104(14):6001-6
The Lens. Cited by Patents in .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • OTT1(RBM15) was originally described as a 5' translocation partner of the MAL(MKL1) gene in t(1,22)(p13;q13) infant acute mega karyocytic leukemia.
  • To define the role of OTT1 in hematopoiesis and help elucidate the mechanism of t(1,22) acute megakaryocytic leukemia pathogenesis, a conditional allele of Ott1 was generated in mice.
  • There is myeloid and megakaryocytic expansion in spleen and bone marrow, an increase in the Lin(-)Sca-1(+)c-Kit(+) compartment that includes hematopoietic stem cells, and a shift in progenitor fate toward granulocyte differentiation.
  • These data show a requirement for Ott1 in B lymphopoiesis, and inhibitory roles in the myeloid, megakaryocytic, and progenitor compartments.

  • COS Scholar Universe. author profiles.
  • KOMP Repository. gene/protein/disease-specific - KOMP Repository (subscription/membership/fee required).
  • Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .
  • SciCrunch. Marmoset Gene list: Data: Gene Annotation .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Annu Rev Immunol. 2001;19:595-621 [11244048.001]
  • [Cites] Cell. 2000 Sep 15;102(6):753-63 [11030619.001]
  • [Cites] Proc Natl Acad Sci U S A. 2001 May 8;98(10):5776-9 [11344311.001]
  • [Cites] Nat Genet. 2001 Jul;28(3):220-1 [11431691.001]
  • [Cites] Mol Cell. 2002 Mar;9(3):611-23 [11931768.001]
  • [Cites] Dev Cell. 2002 Jul;3(1):137-47 [12110174.001]
  • [Cites] Nature. 2002 Sep 12;419(6903):182-5 [12226669.001]
  • [Cites] EMBO J. 2002 Oct 15;21(20):5417-26 [12374742.001]
  • [Cites] Immunity. 2003 Feb;18(2):301-12 [12594956.001]
  • [Cites] Cell. 2003 May 2;113(3):329-42 [12732141.001]
  • [Cites] Genes Dev. 2003 Aug 1;17(15):1909-20 [12897056.001]
  • [Cites] Nat Immunol. 2004 Mar;5(3):247-53 [14985712.001]
  • [Cites] Annu Rev Immunol. 2004;22:55-79 [15032574.001]
  • [Cites] Immunol Rev. 2004 Aug;200:115-31 [15242400.001]
  • [Cites] Immunol Rev. 2004 Aug;200:182-96 [15242405.001]
  • [Cites] BMC Bioinformatics. 2004 Jul 7;5:91 [15239844.001]
  • [Cites] J Mol Med (Berl). 2004 Sep;82(9):592-9 [15184986.001]
  • [Cites] Blood. 1991 Aug 1;78(3):748-52 [1859887.001]
  • [Cites] Cancer Genet Cytogenet. 1991 Jul 15;54(2):239-43 [1884357.001]
  • [Cites] Cell. 1994 Dec 2;79(5):893-900 [8001126.001]
  • [Cites] Science. 1995 Sep 8;269(5229):1427-9 [7660125.001]
  • [Cites] Cell. 1997 Nov 28;91(5):661-72 [9393859.001]
  • [Cites] Mol Cell Biol. 1998 Jul;18(7):4301-14 [9632814.001]
  • [Cites] Biochemistry. 1999 Aug 17;38(33):10678-90 [10451362.001]
  • [Cites] Immunity. 1999 Sep;11(3):299-308 [10514008.001]
  • [Cites] Immunity. 2004 Dec;21(6):853-63 [15589173.001]
  • [Cites] BMC Dev Biol. 2004;4:15 [15596016.001]
  • [Cites] Blood. 2005 Jun 1;105(11):4272-81 [15701714.001]
  • [Cites] J Biol Chem. 2005 Nov 4;280(44):36935-45 [16129689.001]
  • [Cites] Curr Opin Hematol. 2006 Jan;13(1):7-14 [16319681.001]
  • [Cites] Semin Immunol. 2006 Feb;18(1):31-9 [16386923.001]
  • [Cites] Development. 1999 Dec;126(23):5373-85 [10556062.001]
  • [Cites] Genetics. 2000 Feb;154(2):695-712 [10655223.001]
  • [Cites] Development. 2000 Apr;127(7):1517-29 [10704397.001]
  • [Cites] Nature. 2000 Mar 9;404(6774):193-7 [10724173.001]
  • [Cites] EMBO J. 2000 Apr 17;19(8):1827-38 [10775267.001]
  • [Cites] Nature. 2000 Sep 21;407(6802):383-6 [11014194.001]
  • [Cites] Genetics. 2000 Oct;156(2):733-48 [11014820.001]
  • [Cites] Genes Dev. 2001 May 1;15(9):1140-51 [11331609.001]
  • (PMID = 17376872.001).
  • [ISSN] 0027-8424
  • [Journal-full-title] Proceedings of the National Academy of Sciences of the United States of America
  • [ISO-abbreviation] Proc. Natl. Acad. Sci. U.S.A.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / K08 CA111399; United States / NCI NIH HHS / CA / P01 CA066996; United States / NCI NIH HHS / CA / R01 CA66996
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Drosophila Proteins; 0 / RNA-Binding Proteins; 0 / Rbm15 protein, mouse
  • [Other-IDs] NLM/ PMC1851606
  •  go-up   go-down


88. Korbel JO, Tirosh-Wagner T, Urban AE, Chen XN, Kasowski M, Dai L, Grubert F, Erdman C, Gao MC, Lange K, Sobel EM, Barlow GM, Aylsworth AS, Carpenter NJ, Clark RD, Cohen MY, Doran E, Falik-Zaccai T, Lewin SO, Lott IT, McGillivray BC, Moeschler JB, Pettenati MJ, Pueschel SM, Rao KW, Shaffer LG, Shohat M, Van Riper AJ, Warburton D, Weissman S, Gerstein MB, Snyder M, Korenberg JR: The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proc Natl Acad Sci U S A; 2009 Jul 21;106(29):12031-6
NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Down syndrome (DS), or trisomy 21, is a common disorder associated with several complex clinical phenotypes.
  • By using state-of-the-art genomics technologies we mapped segmental trisomies at exon-level resolution and identified discrete regions of 1.8-16.3 Mb likely to be involved in the development of 8 DS phenotypes, 4 of which are congenital malformations, including acute megakaryocytic leukemia, transient myeloproliferative disorder, Hirschsprung disease, duodenal stenosis, imperforate anus, severe mental retardation, DS-Alzheimer Disease, and DS-specific congenital heart disease (DSCHD).
  • Our study demonstrates the value of combining advanced genomics with cohorts of rare patients for studying DS, a prototype for the role of copy-number variation in complex disease.

  • Genetic Alliance. consumer health - Down Syndrome.
  • MedlinePlus Health Information. consumer health - Down Syndrome.
  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Genome Biol. 2000;1(2):REVIEWS0002 [11178230.001]
  • [Cites] Gene. 2001 Jan 10;262(1-2):23-33 [11179664.001]
  • [Cites] Nat Genet. 2002 May;31(1):89-93 [11953745.001]
  • [Cites] Genome Biol. 2002 Aug 30;3(9):research0048 [12225587.001]
  • [Cites] Dev Biol. 2004 Feb 15;266(2):346-60 [14738882.001]
  • [Cites] Science. 2004 Jul 23;305(5683):525-8 [15273396.001]
  • [Cites] Nat Genet. 2004 Sep;36(9):949-51 [15286789.001]
  • [Cites] Science. 2004 Oct 22;306(5696):687-90 [15499018.001]
  • [Cites] Humangenetik. 1974 Jan 22;21(1):99-101 [4276065.001]
  • [Cites] Proc Natl Acad Sci U S A. 1989 Aug;86(15):5958-62 [2527368.001]
  • [Cites] Genomics. 1989 Jul;5(1):124-7 [2527801.001]
  • [Cites] Am J Hum Genet. 1990 Feb;46(2):316-22 [2301399.001]
  • [Cites] Prog Clin Biol Res. 1990;360:263-80 [2147289.001]
  • [Cites] Am J Med Genet Suppl. 1990;7:91-7 [2149983.001]
  • [Cites] Cytogenet Cell Genet. 1990;55(1-4):235-44 [2073837.001]
  • [Cites] Am J Hum Genet. 1992 Feb;50(2):294-302 [1531166.001]
  • [Cites] Trends Biotechnol. 1992 Jan-Feb;10(1-2):27-32 [1367928.001]
  • [Cites] Proc Natl Acad Sci U S A. 1994 May 24;91(11):4997-5001 [8197171.001]
  • [Cites] Eur J Hum Genet. 1993;1(2):114-24 [8055322.001]
  • [Cites] Cytogenet Cell Genet. 1995;69(3-4):196-200 [7698011.001]
  • [Cites] Genome Res. 1995 Dec;5(5):427-43 [8808464.001]
  • [Cites] Genomics. 1997 Apr 15;41(2):218-26 [9143497.001]
  • [Cites] Hum Mol Genet. 1998 Feb;7(2):227-37 [9426258.001]
  • [Cites] Proc Natl Acad Sci U S A. 1998 May 26;95(11):6256-61 [9600952.001]
  • [Cites] Am J Med Genet. 1998 Jun 5;77(5):431-8 [9632176.001]
  • [Cites] Genes Chromosomes Cancer. 1998 Sep;23(1):61-6 [9713998.001]
  • [Cites] Genome Res. 1999 Oct;9(10):994-1001 [10523528.001]
  • [Cites] Cancer Res. 2005 Sep 1;65(17):7596-602 [16140924.001]
  • [Cites] Science. 2005 Sep 23;309(5743):2033-7 [16179473.001]
  • [Cites] Nat Genet. 2006 Jan;38(1):24-6 [16369530.001]
  • [Cites] Proc Natl Acad Sci U S A. 2006 Feb 28;103(9):3339-44 [16492768.001]
  • [Cites] Proc Natl Acad Sci U S A. 2006 Mar 21;103(12):4534-9 [16537408.001]
  • [Cites] Nature. 2006 Jun 1;441(7093):595-600 [16554754.001]
  • [Cites] Nature. 2006 Nov 23;444(7118):444-54 [17122850.001]
  • [Cites] Hum Mol Genet. 2007 Jun 1;16(11):1359-66 [17412756.001]
  • [Cites] Proc Natl Acad Sci U S A. 2007 Jun 12;104(24):10110-5 [17551006.001]
  • [Cites] J Med Genet. 2007 Jul;44(7):448-51 [17237124.001]
  • [Cites] Genome Biol. 2007;8(5):R91 [17531092.001]
  • [Cites] J Comp Neurol. 2007 Oct 1;504(4):329-45 [17663443.001]
  • [Cites] Science. 2007 Oct 19;318(5849):420-6 [17901297.001]
  • [Cites] Eur J Hum Genet. 2009 Apr;17(4):454-66 [19002211.001]
  • [Cites] Genet Med. 2001 Mar-Apr;3(2):91-101 [11280955.001]
  • (PMID = 19597142.001).
  • [ISSN] 1091-6490
  • [Journal-full-title] Proceedings of the National Academy of Sciences of the United States of America
  • [ISO-abbreviation] Proc. Natl. Acad. Sci. U.S.A.
  • [Language] eng
  • [Grant] United States / NIGMS NIH HHS / GM / T32 GM007205
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] United States
  • [Other-IDs] NLM/ PMC2709665
  •  go-up   go-down


89. Rabin KR, Whitlock JA: Malignancy in children with trisomy 21. Oncologist; 2009 Feb;14(2):164-73
COS Scholar Universe. author profiles.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Patients with Down syndrome (DS) display a unique spectrum of malignancies, with a 10- to 20-fold higher risk of acute leukemias, and a markedly lower incidence of solid tumors.
  • This review discusses the current understanding of the basis for this distinctive pattern of cancer incidence and the clinical and biologic features of the malignant disorders most frequent in DS individuals: transient myeloproliferative disease, acute megakaryoblastic leukemia, and acute lymphoblastic leukemia.
  • We also review distinctive pharmacogenetic issues, highlighting the differential chemosensitivity and toxicity profiles of DS patients compared with the general population, and epidemiologic studies of protective and adverse environmental risk factors for the development of leukemia.

  • MedlinePlus Health Information. consumer health - Cancer in Children.
  • MedlinePlus Health Information. consumer health - Down Syndrome.
  • MedlinePlus Health Information. consumer health - Leukemia.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Cancer. 2007 Nov 1;110(9):2067-74 [17849462.001]
  • [Cites] J Clin Oncol. 2007 Dec 1;25(34):5442-7 [18048827.001]
  • [Cites] Mutat Res. 2008 Jan 1;637(1-2):118-23 [17765270.001]
  • [Cites] Nature. 2008 Jan 3;451(7174):73-5 [18172498.001]
  • [Cites] J Clin Oncol. 2008 Jan 20;26(3):414-20 [18202418.001]
  • [Cites] Blood. 2008 Feb 1;111(3):1575-83 [17971484.001]
  • [Cites] Pediatr Clin North Am. 2008 Feb;55(1):53-70, x [18242315.001]
  • [Cites] Blood. 2008 Mar 15;111(6):2991-8 [18182574.001]
  • [Cites] Paediatr Perinat Epidemiol. 2008 May;22(3):288-95 [18426524.001]
  • [Cites] Cancer. 2008 Aug 1;113(3):515-21 [18521927.001]
  • [Cites] Blood. 2004 Apr 1;103(7):2480-9 [14656875.001]
  • [Cites] Br J Haematol. 2004 Jun;125(6):729-42 [15180862.001]
  • [Cites] Leukemia. 2004 Oct;18(10):1617-23 [15343346.001]
  • [Cites] Lancet. 1972 Jun 24;1(7765):1359-61 [4113564.001]
  • [Cites] Am J Dis Child. 1981 Mar;135(3):251-5 [6452055.001]
  • [Cites] Lancet. 1986 Oct 18;2(8512):914 [2876340.001]
  • [Cites] Eur J Pediatr. 1987 Jul;146(4):416-22 [2958283.001]
  • [Cites] J Pediatr. 1987 Oct;111(4):606-12 [2958611.001]
  • [Cites] Am J Med Genet Suppl. 1990;7:204-12 [2149949.001]
  • [Cites] Am J Med Genet Suppl. 1990;7:231-3 [2149953.001]
  • [Cites] Lancet. 2008 Oct 25;372(9648):1484-92 [18805579.001]
  • [Cites] Blood. 2008 Nov 15;112(10):4220-6 [18755984.001]
  • [Cites] Pediatr Blood Cancer. 2009 Jan;52(1):123-5 [18615507.001]
  • [Cites] Leuk Res. 2009 Feb;33(2):336-9 [18718659.001]
  • [Cites] Lancet. 2000 Jan 15;355(9199):165-9 [10675114.001]
  • [Cites] Leukemia. 2000 May;14(5):786-91 [10803507.001]
  • [Cites] Leukemia. 2000 May;14(5):943-4 [10803530.001]
  • [Cites] Br J Haematol. 2000 Sep;110(3):512-24 [10997960.001]
  • [Cites] Blood. 2001 Jun 15;97(12):3727-32 [11389009.001]
  • [Cites] Arch Dis Child. 2001 Oct;85(4):321-5 [11567943.001]
  • [Cites] Blood. 2002 Jan 1;99(1):245-51 [11756178.001]
  • [Cites] Eur J Hum Genet. 2001 Nov;9(11):811-4 [11781696.001]
  • [Cites] Lancet. 2002 Mar 23;359(9311):1019-25 [11937181.001]
  • [Cites] Nat Genet. 2002 Sep;32(1):148-52 [12172547.001]
  • [Cites] Leukemia. 2003 Feb;17(2):277-82 [12592323.001]
  • [Cites] Lancet. 2003 Apr 12;361(9365):1281-9 [12699967.001]
  • [Cites] Blood. 2003 Jun 1;101(11):4298-300 [12560215.001]
  • [Cites] Blood. 2003 Aug 1;102(3):981-6 [12649131.001]
  • [Cites] Leukemia. 2003 Sep;17(9):1905-7 [12970794.001]
  • [Cites] J Clin Oncol. 2003 Sep 15;21(18):3415-22 [12885836.001]
  • [Cites] Blood. 2003 Oct 15;102(8):2960-8 [12816863.001]
  • [Cites] Blood. 2004 Jan 1;103(1):252-7 [12958073.001]
  • [Cites] Blood. 2004 Jan 15;103(2):399-406 [14512321.001]
  • [Cites] Cancer Res. 2004 Jan 15;64(2):728-35 [14744791.001]
  • [Cites] Am J Med Genet Suppl. 1990;7:267-71 [2149960.001]
  • [Cites] Blood. 1992 Nov 1;80(9):2210-4 [1384797.001]
  • [Cites] J Clin Oncol. 1993 Jul;11(7):1361-7 [8315434.001]
  • [Cites] Leuk Res. 1994 Mar;18(3):163-71 [8139285.001]
  • [Cites] N Engl J Med. 1996 May 30;334(22):1428-34 [8618581.001]
  • [Cites] Br J Haematol. 1996 Jul;94(1):82-8 [8757513.001]
  • [Cites] J Clin Oncol. 1997 Apr;15(4):1544-52 [9193351.001]
  • [Cites] Blood. 1998 Jan 15;91(2):608-15 [9427716.001]
  • [Cites] Leukemia. 1998 May;12(5):645-51 [9593260.001]
  • [Cites] Clin Cancer Res. 1998 Sep;4(9):2169-77 [9748136.001]
  • [Cites] Blood. 1999 Aug 15;94(4):1393-400 [10438727.001]
  • [Cites] Arch Dis Child. 1999 Jul;81(1):32-7 [10373130.001]
  • [Cites] Am J Clin Nutr. 1999 Oct;70(4):495-501 [10500018.001]
  • [Cites] AMA J Dis Child. 1957 Sep;94(3):289-93 [13457660.001]
  • [Cites] Br J Cancer. 2004 Nov 29;91(11):1866-72 [15520821.001]
  • [Cites] Pediatr Blood Cancer. 2005 Jan;44(1):21-8 [15368546.001]
  • [Cites] Pediatr Blood Cancer. 2005 Jan;44(1):33-9 [15390307.001]
  • [Cites] Pediatr Blood Cancer. 2005 Jan;44(1):13-20 [15534881.001]
  • [Cites] Br J Haematol. 2005 Mar;128(6):797-804 [15755283.001]
  • [Cites] Nature. 2005 Apr 28;434(7037):1144-8 [15793561.001]
  • [Cites] Nat Genet. 2005 Jun;37(6):613-9 [15895080.001]
  • [Cites] Cancer. 2005 Jul 15;104(2):405-10 [15952191.001]
  • [Cites] Leukemia. 2005 Aug;19(8):1355-60 [15920490.001]
  • [Cites] Leuk Res. 2005 Nov;29(11):1353-6 [15916804.001]
  • [Cites] Leukemia. 2005 Dec;19(12):2090-100 [16304571.001]
  • [Cites] Blood. 2005 Dec 15;106(13):4043-9 [16109782.001]
  • [Cites] Blood. 2006 Jan 1;107(1):87-97 [16144799.001]
  • [Cites] Int J Cancer. 2006 Apr 1;118(7):1769-72 [16231334.001]
  • [Cites] Blood. 2006 Feb 15;107(4):1570-81 [16249385.001]
  • [Cites] Proc Natl Acad Sci U S A. 2006 Feb 28;103(9):3339-44 [16492768.001]
  • [Cites] Ann Hematol. 2006 May;85(5):275-80 [16518605.001]
  • [Cites] Br J Haematol. 2006 Jun;133(6):646-8 [16704441.001]
  • [Cites] Blood. 2006 Jun 15;107(12):4606-13 [16469874.001]
  • [Cites] Nat Genet. 2006 Jul;38(7):807-12 [16783379.001]
  • [Cites] Cancer Cell. 2006 Jul;10(1):65-75 [16843266.001]
  • [Cites] Am J Epidemiol. 2006 Aug 1;164(3):212-21 [16760223.001]
  • [Cites] Pediatrics. 2006 Nov;118(5):e1499-508 [17030598.001]
  • [Cites] Br J Haematol. 2006 Dec;135(5):595-602 [17054672.001]
  • [Cites] Epidemiology. 2007 Jan;18(1):158-61 [17099322.001]
  • [Cites] Leukemia. 2007 Mar;21(3):574-6 [17252020.001]
  • [Cites] Pediatr Blood Cancer. 2007 Jun 15;48(7):651-62 [17183582.001]
  • [Cites] Leukemia. 2007 Jul;21(7):1584-7 [17443226.001]
  • [Cites] Blood. 2007 Aug 1;110(3):1077-9 [17644747.001]
  • [Cites] Pediatr Blood Cancer. 2007 Dec;49(7 Suppl):1066-9 [17943965.001]
  • (PMID = 19176633.001).
  • [ISSN] 1549-490X
  • [Journal-full-title] The oncologist
  • [ISO-abbreviation] Oncologist
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / U10 CA098543-06; United States / NCI NIH HHS / CA / K12 CA090433; United States / NCI NIH HHS / CA / U10 CA098543; United States / NCI NIH HHS / CA / 1 U10 CA098543-01; United States / NCI NIH HHS / CA / K12 CA090433-06; None / None / / U10 CA098543-06; United States / NCI NIH HHS / CA / CA90433-06
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] United States
  • [Number-of-references] 91
  • [Other-IDs] NLM/ NIHMS113124; NLM/ PMC2761094
  •  go-up   go-down


90. O'Sullivan NC, Pickering M, Di Giacomo D, Loscher JS, Murphy KJ: Mkl transcription cofactors regulate structural plasticity in hippocampal neurons. Cereb Cortex; 2010 Aug;20(8):1915-25

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Mkl transcription cofactors regulate structural plasticity in hippocampal neurons.
  • Expressed throughout the central nervous system, the myocardin-related, megakaryoblastic acute leukemia 1 and 2 (Mkl1/2) are transcriptional cofactors that can be found tethered in the cytoplasm to monomeric actin but on synaptic activation translocate to the nucleus and associate with transcription factors such as serum response factor (SRF) to regulate expression of structural genes.
  • Moreover, using the passive avoidance-conditioning paradigm, we identify learning-associated alterations of neuronal Mkl expression that appear to contribute to 2 phases of gene regulation during memory consolidation in the hippocampus.
  • The second transcriptional phase occurs later at the 3-h postavoidance time point when Mkl accumulates in the nucleus of hippocampal neurons and there is enhanced transcription of Mkl-dependent structural genes that may contribute to the elaboration of new, memory-associated synapses known to appear over the subsequent 3-h period.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 20016002.001).
  • [ISSN] 1460-2199
  • [Journal-full-title] Cerebral cortex (New York, N.Y. : 1991)
  • [ISO-abbreviation] Cereb. Cortex
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Early Growth Response Protein 2; 0 / Egr2 protein, rat; 0 / Transcription Factors; EC 3.6.1.- / Kif11 protein, rat; EC 3.6.1.- / Kinesin
  •  go-up   go-down


91. Fadilah SA, Raja-Zahratul-Azma RS, Leong CF: Extensive myelofibrosis responsive to treatment for acute erythroblastic leukaemia. Malays J Pathol; 2006 Jun;28(1):55-8
Hazardous Substances Data Bank. DAUNORUBICIN .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Extensive myelofibrosis responsive to treatment for acute erythroblastic leukaemia.
  • Intense myelofibrosis is rarely associated with de novo acute myeloid leukaemia (AML) except in acute megakaryoblastic leukaemia (AML-M7) where there is diffuse marrow fibrosis as a consequence of proliferation of neoplastic myeloid cells.
  • AML associated with significant myelofibrosis developing both de novo or secondary to primary (idiopathic) myelofibrosis is characterised by a fulminant course and extremely poor prognosis, primarily due to treatment-resistant disease.
  • The prognostic value of degree of marrow fibrosis in de novo AML has been poorly investigated.
  • We describe a case of extensive myelofibrosis associated with acute erythroblastic leukaemia (AML-M6) that responded to induction therapy of the leukaemia.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Leukemia, Erythroblastic, Acute / complications. Leukemia, Erythroblastic, Acute / drug therapy. Primary Myelofibrosis / complications. Primary Myelofibrosis / drug therapy
  • [MeSH-minor] Adult. Cytarabine / therapeutic use. Daunorubicin / therapeutic use. Female. Humans. Leukemia, Promyelocytic, Acute / complications. Leukemia, Promyelocytic, Acute / drug therapy. Leukemia, Promyelocytic, Acute / pathology

  • Genetic Alliance. consumer health - Myelofibrosis.
  • Hazardous Substances Data Bank. CYTARABINE .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 17694960.001).
  • [ISSN] 0126-8635
  • [Journal-full-title] The Malaysian journal of pathology
  • [ISO-abbreviation] Malays J Pathol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Malaysia
  • [Chemical-registry-number] 04079A1RDZ / Cytarabine; ZS7284E0ZP / Daunorubicin
  •  go-up   go-down


92. Gluzman DF, Nadgornaya VA, Sklyarenko LM, Ivanovskaya TS, Poludnenko LY, Ukrainskaya NI: Immunocytochemical markers in acute leukaemias diagnosis. Exp Oncol; 2010 Sep;32(3):195-9
MedlinePlus Health Information. consumer health - Acute Myeloid Leukemia.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Immunocytochemical markers in acute leukaemias diagnosis.
  • The study included 1742 patients with acute myeloblastic leukaemias (AML) and acute lymphoblastic leukaemias (ALL), Kyiv city residents and patients from 20 regions of Ukraine.
  • Bone marrow and blood smears were sent at diagnosis to Reference Center.
  • Immunocytochemical study was required especially in diagnosing of AML with minimal differentiation, acute megakaryoblastic leukaemia, acute erythroid leukaemia and acute leukaemias of ambiguous lineage.
  • Acute lymphoblastic leukaemias was broadly classified into B-lineage and T-lineage ALL.
  • Immunocytochemical examination was required to diagnose AL of ambiguous lineage with no clear evidence of lineage differentiation (acute undifferentiated leukaemia) or those with blasts that express markers of more than one lineage (mixed phenotype acute leukaemias).
  • [MeSH-major] Leukemia, Myeloid, Acute / immunology. Precursor Cell Lymphoblastic Leukemia-Lymphoma / immunology
  • [MeSH-minor] Acute Disease. Biomarkers, Tumor / immunology. Humans. Immunohistochemistry. Immunophenotyping. Lymphocyte Subsets / immunology. Lymphocyte Subsets / pathology

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 21403617.001).
  • [ISSN] 1812-9269
  • [Journal-full-title] Experimental oncology
  • [ISO-abbreviation] Exp. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Ukraine
  • [Chemical-registry-number] 0 / Biomarkers, Tumor
  •  go-up   go-down


93. Carpenter E, Valverde-Garduno V, Sternberg A, Mitchell C, Roberts I, Vyas P, Vora A: GATA1 mutation and trisomy 21 are required only in haematopoietic cells for development of transient myeloproliferative disorder. Br J Haematol; 2005 Feb;128(4):548-51
COS Scholar Universe. author profiles.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] GATA1 mutation and trisomy 21 are required only in haematopoietic cells for development of transient myeloproliferative disorder.
  • Trisomy 21 [Down's syndrome (DS)] and mutations in transcription factor GATA1 predispose neonates to a transient myeloproliferative disorder (TMD) and/or acute megakaryocytic leukaemia (AMKL).
  • We previously reported two rare neonates without DS who had TMD, one of whom progressed to AMKL.
  • Trisomy 21 was detected only in blood cells at presentation with TMD/AMKL and disappeared with disease resolution.
  • We now show that the blood cells at presentation of TMD harboured GATA1 genomic DNA mutations, suggesting a requirement for trisomy 21 in haematopoietic cells, rather than other cell types, for development of TMD/AMKL.
  • [MeSH-minor] Base Sequence. DNA Mutational Analysis. DNA, Neoplasm / genetics. Erythroid-Specific DNA-Binding Factors. Female. GATA1 Transcription Factor. Humans. Infant, Newborn. Leukemia, Megakaryoblastic, Acute / genetics. Male. Molecular Sequence Data. Neoplasm Proteins / genetics

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 15686466.001).
  • [ISSN] 0007-1048
  • [Journal-full-title] British journal of haematology
  • [ISO-abbreviation] Br. J. Haematol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / DNA, Neoplasm; 0 / DNA-Binding Proteins; 0 / Erythroid-Specific DNA-Binding Factors; 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human; 0 / Neoplasm Proteins; 0 / Transcription Factors
  •  go-up   go-down


94. Zarina AL, Hamidah A, Yong SC, Rohana J, Hamidah NH, Azma RZ, Boo NY, Jamal R: Transient abnormal myelopoeisis in newborns with Down syndrome. Malays J Pathol; 2007 Dec;29(2):107-11
MedlinePlus Health Information. consumer health - Down Syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Furthermore, even for those who do show spontaneous resolution, a significant percentage will develop acute megakaryoblastic leukaemia within the next few years of life.

  • Genetic Alliance. consumer health - Down Syndrome.
  • MedlinePlus Health Information. consumer health - Bone Marrow Diseases.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19108403.001).
  • [ISSN] 0126-8635
  • [Journal-full-title] The Malaysian journal of pathology
  • [ISO-abbreviation] Malays J Pathol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Malaysia
  •  go-up   go-down


95. Vyas P, Roberts I: Down myeloid disorders: a paradigm for childhood preleukaemia and leukaemia and insights into normal megakaryopoiesis. Early Hum Dev; 2006 Dec;82(12):767-73
MedlinePlus Health Information. consumer health - Down Syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Down myeloid disorders: a paradigm for childhood preleukaemia and leukaemia and insights into normal megakaryopoiesis.
  • Newborns and children with Down Syndrome are predisposed to a range of blood disorders, which include acute lymphoblastic leukaemia and acute megakaryocytic leukaemia (AMKL).
  • Over the last four years there has been considerable progress in our understanding of DS AMKL.
  • Like other childhood leukaemias DS AMKL is initiated in utero and can present in the neonatal period as a clinically overt preleukaemic condition, transient myeloproliferative disorder (TMD).
  • In approximately 30% of TMD patients, additional as yet unidentified (epi)genetic mutations are required for progression to AMKL.
  • Thus, DS TMD and AMKL provide a unique model of childhood leukaemia where the preleukaemic and leukaemic phases are ascertainable and separable allowing distinct steps in leukaemogenesis to be studied individually.
  • These findings also have implications for the clinical management of DS TMD and AMKL specifically and also of childhood leukaemia more generally.
  • [MeSH-major] Down Syndrome / complications. Leukemia, Megakaryoblastic, Acute / physiopathology. Megakaryocytes / physiology. Thrombopoiesis / physiology

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 17064858.001).
  • [ISSN] 0378-3782
  • [Journal-full-title] Early human development
  • [ISO-abbreviation] Early Hum. Dev.
  • [Language] eng
  • [Grant] United Kingdom / Wellcome Trust / /
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] Ireland
  • [Chemical-registry-number] 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human
  • [Number-of-references] 23
  •  go-up   go-down


96. Dixon N, Kishnani PS, Zimmerman S: Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome. Am J Med Genet C Semin Med Genet; 2006 Aug 15;142C(3):149-57
MedlinePlus Health Information. consumer health - Down Syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Increased erythrocyte mean corpuscular volume (MCV) is frequently found among DS infants and remains elevated throughout life in two-thirds of patients, making interpretation of red cell indices for diagnosis of nutritional anemias or bone marrow failure disorders more challenging.
  • Transient myeloproliferative disorder (TMD) associated with pancytopenia, hepatosplenomegaly, and circulating immature WBCs, is found almost exclusively in DS infants with an incidence of approximately 10%.
  • Despite the high rate of spontaneous regression, TMD can be a preleukemic disorder in 20-30% of children with DS.
  • There is an increased risk of leukemia with an equal incidence of lymphoid and myeloid leukemia.
  • Acute megakaryocytic leukemia (AMKL) subtype is the most common form of acute myeloid leukemia (AML) in this setting, and is uncommon in children without DS.
  • Somatic mutations of the gene encoding the hematopoetic growth factor GATA1 have been shown to be specific for TMD and AMKL in children with DS.
  • Children with DS and leukemia are more sensitive to some chemotherapeutic agents such as methotrexate than other children which requires careful monitoring for toxicity.
  • Although the risk for leukemia is higher in individuals with DS, these patients have a lower risk of developing solid tumors, with the exception of germ cell tumors, and perhaps retinoblastoma and lymphoma.
  • [MeSH-major] Down Syndrome / complications. Hematologic Diseases / diagnosis. Hematologic Diseases / etiology. Neoplasms / diagnosis. Neoplasms / etiology
  • [MeSH-minor] Child. Female. Humans. Infant. Leukemia / diagnosis. Leukemia / etiology. Male. Myeloproliferative Disorders / diagnosis. Myeloproliferative Disorders / etiology

  • Genetic Alliance. consumer health - Down Syndrome.
  • MedlinePlus Health Information. consumer health - Blood Disorders.
  • MedlinePlus Health Information. consumer health - Cancer in Children.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 17048354.001).
  • [ISSN] 1552-4868
  • [Journal-full-title] American journal of medical genetics. Part C, Seminars in medical genetics
  • [ISO-abbreviation] Am J Med Genet C Semin Med Genet
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / 2T32 CA 09307
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] United States
  • [Number-of-references] 72
  •  go-up   go-down


97. Bercovich D, Ganmore I, Scott LM, Wainreb G, Birger Y, Elimelech A, Shochat C, Cazzaniga G, Biondi A, Basso G, Cario G, Schrappe M, Stanulla M, Strehl S, Haas OA, Mann G, Binder V, Borkhardt A, Kempski H, Trka J, Bielorei B, Avigad S, Stark B, Smith O, Dastugue N, Bourquin JP, Tal NB, Green AR, Izraeli S: Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome. Lancet; 2008 Oct 25;372(9648):1484-92
SciCrunch. OMIM: Data: Gene Annotation .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome.
  • BACKGROUND: Children with Down's syndrome have a greatly increased risk of acute megakaryoblastic and acute lymphoblastic leukaemias.
  • Acute megakaryoblastic leukaemia in Down's syndrome is characterised by a somatic mutation in GATA1.
  • Constitutive activation of the JAK/STAT (Janus kinase and signal transducer and activator of transcription) pathway occurs in several haematopoietic malignant diseases.
  • We tested the hypothesis that mutations in JAK2 might be a common molecular event in acute lymphoblastic leukaemia associated with Down's syndrome.
  • METHODS: JAK2 DNA mutational analysis was done on diagnostic bone marrow samples obtained from 88 patients with Down's syndrome-associated acute lymphoblastic leukaemia; and 216 patients with sporadic acute lymphoblastic leukaemia, Down's syndrome-associated acute megakaryoblastic leukaemia, and essential thrombocythaemia.
  • FINDINGS: Somatically acquired JAK2 mutations were identified in 16 (18%) patients with Down's syndrome-associated acute lymphoblastic leukaemia.
  • The only patient with non-Down's syndrome-associated leukaemia but with a JAK2 mutation had an isochromosome 21q.
  • Children with a JAK2 mutation were younger (mean [SE] age 4.5 years [0.86] vs 8.6 years [0.59], p<0.0001) at diagnosis.
  • INTERPRETATION: A specific genotype-phenotype association exists between the type of somatic mutation within the JAK2 pseudokinase domain and the development of B-lymphoid or myeloid neoplasms.
  • Somatically acquired R683 JAK2 mutations define a distinct acute lymphoblastic leukaemia subgroup that is uniquely associated with trisomy 21.
  • JAK2 inhibitors could be useful for treatment of this leukaemia.
  • [MeSH-major] Down Syndrome / complications. Down Syndrome / genetics. GATA1 Transcription Factor / genetics. Janus Kinase 2 / genetics. Precursor Cell Lymphoblastic Leukemia-Lymphoma / complications. Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics


98. Roy A, Roberts I, Norton A, Vyas P: Acute megakaryoblastic leukaemia (AMKL) and transient myeloproliferative disorder (TMD) in Down syndrome: a multi-step model of myeloid leukaemogenesis. Br J Haematol; 2009 Oct;147(1):3-12
NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Acute megakaryoblastic leukaemia (AMKL) and transient myeloproliferative disorder (TMD) in Down syndrome: a multi-step model of myeloid leukaemogenesis.
  • Children with Down syndrome (DS) have a marked increase in susceptibility to Acute Megakaryoblastic Leukaemia (DS-AMKL) and the closely linked neonatal preleukaemic syndrome, Transient Myeloproliferative Disorder (DS-TMD).
  • The distinct stages of DS-TMD and DS-AMKL provide an excellent tractable model to study leukaemogenesis.
  • This review focuses on recent studies describing clinical, haematological and biological features of DS-AMKL and DS-TMD.
  • The findings from these studies suggest that mutations in the key haemopoietic regulator GATA1 (GATA binding protein 1) in DS-AMKL and DS-TMD may be useful in diagnosis and assessing minimal residual disease.
  • These findings raise the possibility of population-based screening strategies for DS-TMD and the development of treatment to eliminate the preleukaemic TMD clone to prevent DS-AMKL.
  • These findings have implications for leukaemia biology more broadly given the frequency of acquired trisomy in other human leukaemias.
  • [MeSH-major] Cell Transformation, Neoplastic / genetics. Down Syndrome / genetics. Leukemia, Megakaryoblastic, Acute / genetics. Models, Genetic. Myeloproliferative Disorders / genetics

  • Genetic Alliance. consumer health - Down Syndrome.
  • MedlinePlus Health Information. consumer health - Down Syndrome.
  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19594743.001).
  • [ISSN] 1365-2141
  • [Journal-full-title] British journal of haematology
  • [ISO-abbreviation] Br. J. Haematol.
  • [Language] eng
  • [Grant] United Kingdom / Department of Health / /
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human; 0 / Neoplasm Proteins
  • [Number-of-references] 91
  •  go-up   go-down


99. Heald B, Hilden JM, Zbuk K, Norton A, Vyas P, Theil KS, Eng C: Severe TMD/AMKL with GATA1 mutation in a stillborn fetus with Down syndrome. Nat Clin Pract Oncol; 2007 Jul;4(7):433-8
MedlinePlus Health Information. consumer health - Stillbirth.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Severe TMD/AMKL with GATA1 mutation in a stillborn fetus with Down syndrome.
  • BACKGROUND: A 34-year-old woman was referred for evaluation of a recent stillborn male fetus, gestational age 27 6/7 weeks, found to have congenital myeloid leukemia at autopsy.
  • DIAGNOSIS: Down syndrome with in utero onset of GATA1 mutation-positive severe transient myeloproliferative disorder/acute megakaryoblastic leukemia.
  • [MeSH-major] Down Syndrome / genetics. GATA1 Transcription Factor / genetics. Leukemia, Megakaryoblastic, Acute / genetics. Myeloproliferative Disorders / genetics. Stillbirth

  • Genetic Alliance. consumer health - Down Syndrome.
  • Genetic Alliance. consumer health - Stillborn.
  • MedlinePlus Health Information. consumer health - Down Syndrome.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 17597708.001).
  • [ISSN] 1743-4262
  • [Journal-full-title] Nature clinical practice. Oncology
  • [ISO-abbreviation] Nat Clin Pract Oncol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human
  •  go-up   go-down


100. Lewis MS, Kaicker S, Strauchen JA, Morotti RA: Hepatic involvement in congenital acute megakaryoblastic leukemia: a case report with emphasis on the liver pathology findings. Pediatr Dev Pathol; 2008 Jan-Feb;11(1):55-8
MedlinePlus Health Information. consumer health - Liver Cancer.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Hepatic involvement in congenital acute megakaryoblastic leukemia: a case report with emphasis on the liver pathology findings.
  • We report the case of a 4-week-old infant diagnosed with acute megakaryoblastic leukemia with the t (1;22) (p13, q13) who presented with ascites caused by massive infiltration of hepatic sinusoids by leukemic cells.
  • Marrow fibrosis appeared after infiltrative disease in the liver and liver fibrosis.
  • We describe the microscopic liver findings and associated clinical presentation that, in the absence of bone marrow involvement, can be difficult to diagnose as leukemia.
  • Few cases have been reported in the medical literature with the liver as the primary site of involvement in congenital leukemia.
  • Awareness of this unusual clinical presentation and of the characteristic liver pathology may facilitate the pathologic diagnosis.
  • [MeSH-major] Leukemia, Megakaryoblastic, Acute / diagnosis. Liver / pathology. Liver Neoplasms / pathology

  • Genetic Alliance. consumer health - Acute Megakaryoblastic Leukemia.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 18237237.001).
  • [ISSN] 1093-5266
  • [Journal-full-title] Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
  • [ISO-abbreviation] Pediatr. Dev. Pathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  •  go-up   go-down






Advertisement