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1. 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
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  • [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

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  • (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
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2. 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
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  • [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.

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  • (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
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3. 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
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  • [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

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  • (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
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4. 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
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  • [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

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  • (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
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5. 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
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  • [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

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  • (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
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6. 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
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  • [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.

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  • (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
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7. 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
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  • [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.

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  • (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
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8. Smadja DM, Gisselbrecht M, Valensi F, Mossafa H, Darnige L: [Acute megakaryoblastic leukemia (AML-7) in a woman of 95 years]. Ann Biol Clin (Paris); 2006 Mar-Apr;64(2):173-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Acute megakaryoblastic leukemia (AML-7) in a woman of 95 years].
  • [Transliterated title] Leucémie aiguë mégacaryoblastique (LAM-7) chez une patiente de 95 ans.
  • Acute leukemia of megakaryocyte lineage (AML-7) is a rare entity defined by a blastic proliferation of which a part (>or= 50%) is represented by megakaryoblasts.
  • [MeSH-major] Leukemia, Megakaryoblastic, Acute / diagnosis

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  • (PMID = 16556530.001).
  • [ISSN] 0003-3898
  • [Journal-full-title] Annales de biologie clinique
  • [ISO-abbreviation] Ann. Biol. Clin. (Paris)
  • [Language] fre
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] France
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9. 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
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  • [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

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  • (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
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10. 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
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  • [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

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  • (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
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11. 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
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  • [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

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  • (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
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12. 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
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  • [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

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  • [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
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13. Papageorgiou SG, Pappa V, Economopoulou C, Tsirigotis P, Konsioti F, Ionnidou ED, Chondropoulos S, Vasilatou D, Papageorgiou E, Economopoulos T, Dervenoulas J: Dasatinib induces long-term remission in imatinib-resistant Philadelphia chromosome-positive acute megakaryoblastic leukemia but fails to prevent development of central nervous system progression. Leuk Res; 2010 Sep;34(9):e254-6
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  • [Title] Dasatinib induces long-term remission in imatinib-resistant Philadelphia chromosome-positive acute megakaryoblastic leukemia but fails to prevent development of central nervous system progression.
  • [MeSH-major] Antineoplastic Agents / therapeutic use. Central Nervous System Neoplasms / secondary. Leukemia, Megakaryoblastic, Acute / drug therapy. Philadelphia Chromosome. Piperazines / therapeutic use. Pyrimidines / therapeutic use. Thiazoles / therapeutic use

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  • (PMID = 20392492.001).
  • [ISSN] 1873-5835
  • [Journal-full-title] Leukemia research
  • [ISO-abbreviation] Leuk. Res.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Antineoplastic Agents; 0 / Benzamides; 0 / Piperazines; 0 / Pyrimidines; 0 / Thiazoles; 8A1O1M485B / Imatinib Mesylate; RBZ1571X5H / Dasatinib
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14. Shiba N, Tamura K, Kanazawa T, Tsukada S, Koitabashi M, Morikawa A: Novel three-way t(4;5;22)(q35;q31;q13) in acute megakaryoblastic leukemia. Cancer Genet Cytogenet; 2007 Apr 1;174(1):82-3
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  • [Title] Novel three-way t(4;5;22)(q35;q31;q13) in acute megakaryoblastic leukemia.
  • [MeSH-major] Chromosomes, Human, Pair 22 / genetics. Chromosomes, Human, Pair 4 / genetics. Chromosomes, Human, Pair 5 / drug effects. Leukemia, Megakaryoblastic, Acute / genetics. Translocation, Genetic

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  • (PMID = 17350474.001).
  • [ISSN] 0165-4608
  • [Journal-full-title] Cancer genetics and cytogenetics
  • [ISO-abbreviation] Cancer Genet. Cytogenet.
  • [Language] eng
  • [Publication-type] Letter
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antineoplastic Agents; 0 / Oncogene Proteins, Fusion
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15. Abdelhaleem M, Beimnet K, Kirby-Allen M, Naqvi A, Hitzler J, Shago M: High incidence of CALM-AF10 fusion and the identification of a novel fusion transcript in acute megakaryoblastic leukemia in children without Down's syndrome. Leukemia; 2007 Feb;21(2):352-3
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] High incidence of CALM-AF10 fusion and the identification of a novel fusion transcript in acute megakaryoblastic leukemia in children without Down's syndrome.
  • [MeSH-major] Leukemia, Megakaryoblastic, Acute / genetics. Oncogene Proteins, Fusion / genetics. Transcription, Genetic

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  • [CommentIn] Leukemia. 2007 Dec;21(12):2568-9 [17611559.001]
  • (PMID = 17170719.001).
  • [ISSN] 0887-6924
  • [Journal-full-title] Leukemia
  • [ISO-abbreviation] Leukemia
  • [Language] eng
  • [Publication-type] Letter
  • [Publication-country] England
  • [Chemical-registry-number] 0 / AF10-CALM fusion protein, human; 0 / Oncogene Proteins, Fusion; 0 / Receptors, Antigen, T-Cell, gamma-delta
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16. 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
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  • [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.

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  • (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
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17. Hitzler JK: Acute megakaryoblastic leukemia in Down syndrome. Pediatr Blood Cancer; 2007 Dec;49(7 Suppl):1066-9
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  • [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

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  • [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
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18. Roche-Lestienne C, Dastugue N, Richebourg S, Roquefeuil B, Dalle JH, Laï JL, Andrieux J: Acute megakaryoblastic leukemia with der(7)t(5;7)(q11;p11 approximately p12) associated with Down syndrome: a fourth case report. Cancer Genet Cytogenet; 2006 Sep;169(2):184-6
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  • [Title] Acute megakaryoblastic leukemia with der(7)t(5;7)(q11;p11 approximately p12) associated with Down syndrome: a fourth case report.
  • [MeSH-major] Chromosome Aberrations. Down Syndrome / complications. Leukemia, Megakaryoblastic, Acute / complications. Leukemia, Megakaryoblastic, Acute / genetics

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  • (PMID = 16938582.001).
  • [ISSN] 0165-4608
  • [Journal-full-title] Cancer genetics and cytogenetics
  • [ISO-abbreviation] Cancer Genet. Cytogenet.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] United States
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19. Hitzler J, Zipursky A: GATA 1 mutations as clonal markers of minimal residual disease in acute megakaryoblastic leukemia of Down syndrome--a new tool with significant potential applications. Leuk Res; 2005 Nov;29(11):1239-40
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] GATA 1 mutations as clonal markers of minimal residual disease in acute megakaryoblastic leukemia of Down syndrome--a new tool with significant potential applications.
  • [MeSH-major] Down Syndrome / complications. GATA1 Transcription Factor / genetics. Leukemia, Megakaryoblastic, Acute / diagnosis. Leukemia, Megakaryoblastic, Acute / genetics

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  • [CommentOn] Leuk Res. 2005 Nov;29(11):1353-6 [15916804.001]
  • (PMID = 15925405.001).
  • [ISSN] 0145-2126
  • [Journal-full-title] Leukemia research
  • [ISO-abbreviation] Leuk. Res.
  • [Language] eng
  • [Publication-type] Comment; Editorial
  • [Publication-country] England
  • [Chemical-registry-number] 0 / GATA1 Transcription Factor; 0 / Genetic Markers
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20. Pérez-Vera P, Montero-Ruíz O, Paredes-Aguilera R, Romero-Guzmán L: [Three-way translocation t(3;12;21)(q26.2;q24.1;q22) in a girl with de novo acute megakaryoblastic leukemia]. Rev Invest Clin; 2008 Mar-Apr;60(2):181-2
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  • [Title] [Three-way translocation t(3;12;21)(q26.2;q24.1;q22) in a girl with de novo acute megakaryoblastic leukemia].
  • [Transliterated title] Triple translocación t(3;12;21)(q26.2;q24.1;q22) en una niña con leucemia aguda megacarioblástica de novo.
  • [MeSH-major] Leukemia, Megakaryoblastic, Acute / genetics. Translocation, Genetic

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  • (PMID = 18637574.001).
  • [ISSN] 0034-8376
  • [Journal-full-title] Revista de investigación clínica; organo del Hospital de Enfermedades de la Nutrición
  • [ISO-abbreviation] Rev. Invest. Clin.
  • [Language] spa
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Mexico
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21. 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
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  • [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

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  • (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
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22. 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
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  • [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

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  • (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
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23. 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
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  • [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.

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  • (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
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24. 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
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  • [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.

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  • (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
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25. Willmann M, Müllauer L, Schwendenwein I, Wolfesberger B, Kleiter M, Pagitz M, Hadzijusufovic E, Shibly S, Reifinger M, Thalhammer JG, Valent P: Chemotherapy in canine acute megakaryoblastic leukemia: a case report and review of the literature. In Vivo; 2009 Nov-Dec;23(6):911-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Chemotherapy in canine acute megakaryoblastic leukemia: a case report and review of the literature.
  • Acute myeloid leukemia (AML) in dogs is a rare disease with poor prognosis.
  • A 3.5-year-old male castrated labrador with AML-M7, which was treated with induction polychemotherapy (8 cycles) using vincristine (0.5 mg/m(2)/cycle), daunorubicin (20 mg/m(2)/cycle), cytosine arabinoside (ARA-C, 100 mg/m(2)/cycle) and prednisolone (1 mg/kg/day) is reported.
  • Again, no severe side-effects occurred and the disease was controlled, with 37 chemotherapy-cycles (ARA-C, 3 x 1,000 mg/m(2)/cycle), for 24 months.
  • Clinical trials using high-dose ARA-C are now required to confirm antileukemic efficacy in canine leukemias.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Dog Diseases / drug therapy. Leukemia, Megakaryoblastic, Acute / veterinary

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  • (PMID = 20023232.001).
  • [ISSN] 0258-851X
  • [Journal-full-title] In vivo (Athens, Greece)
  • [ISO-abbreviation] In Vivo
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Greece
  • [Chemical-registry-number] 04079A1RDZ / Cytarabine; 5J49Q6B70F / Vincristine; 6PLQ3CP4P3 / Etoposide; 9PHQ9Y1OLM / Prednisolone; ZS7284E0ZP / Daunorubicin
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26. 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
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  • [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

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  • [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
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27. 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
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  • [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


28. 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
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  • [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

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  • (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
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29. 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
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  • [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

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  • (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
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30. Liapis K, Apostolidis I, Karmiris T, Harhalakis N: Numb chin syndrome as the initial manifestation of acute megakaryoblastic leukemia. Leuk Lymphoma; 2010 Dec;51(12):2310-1
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Numb chin syndrome as the initial manifestation of acute megakaryoblastic leukemia.
  • [MeSH-major] Hypesthesia / diagnosis. Hypesthesia / etiology. Leukemia, Megakaryoblastic, Acute / complications. Leukemia, Megakaryoblastic, Acute / diagnosis
  • [MeSH-minor] Chin. Diagnosis, Differential. Early Detection of Cancer. Humans. Lip. Male. Middle Aged. Syndrome

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  • (PMID = 20929317.001).
  • [ISSN] 1029-2403
  • [Journal-full-title] Leukemia & lymphoma
  • [ISO-abbreviation] Leuk. Lymphoma
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] England
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31. 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
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  • [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

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  • (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
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32. Bhat R, Malinge S, Gamis AS, Sorrell AD, Hilden JM, Ketterling RP, Paietta E, Tallman MS, Crispino JD: Mutational analysis of candidate tumor-associated genes in acute megakaryoblastic leukemia. Leukemia; 2009 Nov;23(11):2159-60
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Mutational analysis of candidate tumor-associated genes in acute megakaryoblastic leukemia.

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  • [CommentOn] Leukemia. 2009 May;23(5):852-5 [19194467.001]
  • (PMID = 19657363.001).
  • [ISSN] 1476-5551
  • [Journal-full-title] Leukemia
  • [ISO-abbreviation] Leukemia
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / R01 CA101774; United States / NCI NIH HHS / CA / U10 CA098413; United States / NCI NIH HHS / CA / CA101774; United States / NCI NIH HHS / CA / U10 CA098543; United States / NCI NIH HHS / CA / U24 CA114737
  • [Publication-type] Comment; Letter; Research Support, N.I.H., Extramural
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Transcription Factors
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33. 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
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  • [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.

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  • [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
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34. 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
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  • [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

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  • (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
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35. 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
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  • [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

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  • (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
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36. 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
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  • [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

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  • [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
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37. 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
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  • [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

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  • (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
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38. 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
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  • [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

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  • (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
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39. 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

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  • (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
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40. 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
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  • [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

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  • [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
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41. Cantor AB: GATA transcription factors in hematologic disease. Int J Hematol; 2005 Jun;81(5):378-84
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  • [Title] GATA transcription factors in hematologic disease.
  • GATA-1, one of the hematopoietically expressed members, is required for normal erythroid and megakaryocytic differentiation.
  • Over the past few years, mutations in the gene encoding GATA-1 have been linked to several human hematologic disorders, including X-linked dyserythropoietic anemia and thrombocytopenia, X-linked thrombocytopenia and beta-thalassemia, and Down syndrome acute megakaryoblastic leukemia.
  • This review summarizes the role of GATA-1 during normal hematopoiesis and discusses how disease-associated mutations may affect its function.
  • [MeSH-minor] Anemia / genetics. Erythroid-Specific DNA-Binding Factors. GATA1 Transcription Factor. Hematopoiesis. Humans. Leukemia / genetics. Mutation

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  • (PMID = 16158817.001).
  • [ISSN] 0925-5710
  • [Journal-full-title] International journal of hematology
  • [ISO-abbreviation] Int. J. Hematol.
  • [Language] eng
  • [Grant] United States / NHLBI NIH HHS / HL / HL075705
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.; 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] 59
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42. Vainchenker W, Dusa A, Constantinescu SN: JAKs in pathology: role of Janus kinases in hematopoietic malignancies and immunodeficiencies. Semin Cell Dev Biol; 2008 Aug;19(4):385-93
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  • Mutations and translocations in the JAK genes leading to constitutively active JAK proteins are associated with a variety of hematopoietic malignancies, including the myeloproliferative disorders (JAK2), acute lymphoblastic leukemia (JAK2), acute myeloid leukemia (JAK2, JAK1), acute megakaryoblastic leukemia (JAK2, JAK3) and T-cell precursor acute lymphoblastic leukemia (JAK1).

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  • (PMID = 18682296.001).
  • [ISSN] 1084-9521
  • [Journal-full-title] Seminars in cell & developmental biology
  • [ISO-abbreviation] Semin. Cell Dev. Biol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Isoenzymes; 0 / Receptors, Cytokine; 0 / Recombinant Fusion Proteins; EC 2.7.10.2 / Janus Kinases
  • [Number-of-references] 121
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43. Sawada T, Nishiyama C, Kishi T, Sasazuki T, Komazawa-Sakon S, Xue X, Piao JH, Ogata H, Nakayama J, Taki T, Hayashi Y, Watanabe M, Yagita H, Okumura K, Nakano H: Fusion of OTT to BSAC results in aberrant up-regulation of transcriptional activity. J Biol Chem; 2008 Sep 26;283(39):26820-8

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • OTT/RBM15-BSAC/MAL/MKL1/MRTF-A was identified as a fusion transcript generated by t(1;22)(p13;q13) in acute megakaryoblastic leukemia.
  • Previous studies have shown that BSAC (basic, SAP, and coiled-coil domain) activates the promoters containing CArG boxes via interaction with serum response factor, and OTT (one twenty-two) negatively regulates the development of megakaryocytes and myeloid cells.
  • However, the mechanism by which OTT-BSAC promotes leukemia is largely unknown.
  • Collectively, these functional and spatial changes of OTT and BSAC caused by the fusion might perturb their functions, culminating in the development of acute megakaryoblastic leukemia.
  • [MeSH-major] Cell Nucleus / metabolism. DNA-Binding Proteins / metabolism. Leukemia, Megakaryoblastic, Acute / metabolism. Oncogene Proteins, Fusion / metabolism. RNA-Binding Proteins / metabolism. Response Elements. Transcription, Genetic

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  • (PMID = 18667423.001).
  • [ISSN] 0021-9258
  • [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 / DNA-Binding Proteins; 0 / MKL1 protein, human; 0 / Oncogene Proteins, Fusion; 0 / RBM15 protein, human; 0 / RNA-Binding Proteins; 0 / Trans-Activators; 0 / YY1 Transcription Factor; 0 / YY1 protein, human; EC 3.5.1.98 / Histone Deacetylases; EC 3.5.1.98 / histone deacetylase 3
  • [Other-IDs] NLM/ PMC3258922
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44. Klusmann JH, Reinhardt D, Hasle H, Kaspers GJ, Creutzig U, Hahlen K, van den Heuvel-Eibrink MM, Zwaan CM: Janus kinase mutations in the development of acute megakaryoblastic leukemia in children with and without Down's syndrome. Leukemia; 2007 Jul;21(7):1584-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Janus kinase mutations in the development of acute megakaryoblastic leukemia in children with and without Down's syndrome.
  • [MeSH-major] Down Syndrome / complications. Janus Kinases / genetics. Leukemia, Megakaryoblastic, Acute / etiology

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  • (PMID = 17443226.001).
  • [ISSN] 0887-6924
  • [Journal-full-title] Leukemia
  • [ISO-abbreviation] Leukemia
  • [Language] eng
  • [Publication-type] Letter
  • [Publication-country] England
  • [Chemical-registry-number] EC 2.7.10.2 / Janus Kinases
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45. Larussa D, Grisetti S, Pilozzi E, Concorsi P, Pisa R, Ruco L, Antinori A: Acute megakaryoblastic leukemia in a patient receiving HAART. Am J Hematol; 2005 Sep;80(1):89-90
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Acute megakaryoblastic leukemia in a patient receiving HAART.
  • [MeSH-major] Acquired Immunodeficiency Syndrome / drug therapy. Antiretroviral Therapy, Highly Active / adverse effects. Leukemia, Megakaryoblastic, Acute / chemically induced


46. Gurbuxani S: CD36 - a marker for drug sensitive acute megakaryoblastic leukemia. Leuk Lymphoma; 2006 Oct;47(10):2004-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] CD36 - a marker for drug sensitive acute megakaryoblastic leukemia.
  • [MeSH-major] Antigens, CD36 / biosynthesis. Gene Expression Regulation, Neoplastic. Leukemia, Megakaryoblastic, Acute / drug therapy. Leukemia, Megakaryoblastic, Acute / metabolism

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  • [CommentOn] Leuk Lymphoma. 2006 Oct;47(10):2076-83 [17071479.001]
  • (PMID = 17071466.001).
  • [ISSN] 1042-8194
  • [Journal-full-title] Leukemia & lymphoma
  • [ISO-abbreviation] Leuk. Lymphoma
  • [Language] eng
  • [Publication-type] Comment; Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Antigens, CD36; 0 / Biomarkers
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47. Rodrigues EF, da Costa ES, Land MG, Diamond HR, Ornellas MH, Abdelhay E, Fernandez Tde S: Transient myelodysplasia in an infant with Down syndrome preceding acute megakaryoblastic leukemia: cytogenetic and immunophenotypic findings. Cancer Genet Cytogenet; 2009 Jan 1;188(1):54-6
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  • [Title] Transient myelodysplasia in an infant with Down syndrome preceding acute megakaryoblastic leukemia: cytogenetic and immunophenotypic findings.
  • [MeSH-major] Down Syndrome / complications. Leukemia, Megakaryoblastic, Acute / etiology. Myelodysplastic Syndromes / etiology


48. Reinhardt D, Diekamp S, Langebrake C, Ritter J, Stary J, Dworzak M, Schrauder A, Zimmermann M, Fleischhack G, Ludwig WD, Harbott J, Creutzig U: Acute megakaryoblastic leukemia in children and adolescents, excluding Down's syndrome: improved outcome with intensified induction treatment. Leukemia; 2005 Aug;19(8):1495-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Acute megakaryoblastic leukemia in children and adolescents, excluding Down's syndrome: improved outcome with intensified induction treatment.
  • [MeSH-major] Leukemia, Megakaryoblastic, Acute / drug therapy

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  • (PMID = 15920489.001).
  • [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] 04079A1RDZ / Cytarabine; 6PLQ3CP4P3 / Etoposide; ZRP63D75JW / Idarubicin; ICE protocol 4
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49. Brahmanday GR, Gheorghe G, Jaiyesimi IA, Orazi A, Zekman R, Parikh R, Wills SM, Einhorn LH: Primary mediastinal germ cell tumor evolving into an extramedullary acute megakaryoblastic leukemia causing cord compression. J Clin Oncol; 2008 Oct 1;26(28):4686-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Primary mediastinal germ cell tumor evolving into an extramedullary acute megakaryoblastic leukemia causing cord compression.
  • [MeSH-major] Leukemia, Megakaryoblastic, Acute / pathology. Mediastinal Neoplasms / pathology. Neoplasms, Germ Cell and Embryonal / pathology. Spinal Cord Compression / pathology
  • [MeSH-minor] Adult. Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Biomarkers, Tumor / analysis. Biopsy. Combined Modality Therapy. Diagnosis, Differential. Humans. Male. Tomography, Emission-Computed. Tomography, X-Ray Computed

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  • (PMID = 18824716.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor
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50. 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.

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  • (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


51. Constantinescu SN, Girardot M, Pecquet C: Mining for JAK-STAT mutations in cancer. Trends Biochem Sci; 2008 Mar;33(3):122-31
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  • JAK2 and JAK3 mutations have also been identified in a minority of polycythemia vera and acute megakaryoblastic leukemia patients, and it is predicted that further JAK-STAT mutations will be identified in different cancers.

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  • (PMID = 18291658.001).
  • [ISSN] 0968-0004
  • [Journal-full-title] Trends in biochemical sciences
  • [ISO-abbreviation] Trends Biochem. Sci.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / STAT Transcription Factors; EC 2.7.10.2 / Janus Kinases
  • [Number-of-references] 77
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52. Lei Q, Liu Y, Tang SQ: [Childhood acute megakaryoblastic leukemia]. Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2007 Jun;15(3):528-32
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  • [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.

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  • (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
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53. Rabin KR, Whitlock JA: Malignancy in children with trisomy 21. Oncologist; 2009 Feb;14(2):164-73
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  • 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.

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  • (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
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54. Chong LA, Josephine P, Ariffin H: Malignant myeloid transformation in a child with severe congenital neutropenia (Kostmann's syndrome). Med J Malaysia; 2006 Jun;61(2):236-8
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  • [Title] Malignant myeloid transformation in a child with severe congenital neutropenia (Kostmann's syndrome).
  • She subsequently developed acute megakaryoblastic leukemia at the age of 17 years and succumbed during induction chemotherapy.
  • The role of G-CSF in the pathogenesis of her malignant transformation to AML is complicated as this disorder has a propensity for myelodysplasia or AML as part of its natural history.
  • [MeSH-major] Cell Transformation, Neoplastic / pathology. Leukemia, Myeloid / pathology. Neutropenia / congenital

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  • (PMID = 16898320.001).
  • [ISSN] 0300-5283
  • [Journal-full-title] The Medical journal of Malaysia
  • [ISO-abbreviation] Med. J. Malaysia
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Malaysia
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55. Kitoh T, Taki T, Hayashi Y, Nakamura K, Irino T, Osaka M: Transient abnormal myelopoiesis in a Down syndrome newborn followed by acute myeloid leukemia: identification of the same chromosomal abnormality in both stages. Cancer Genet Cytogenet; 2009 Jan 15;188(2):99-102
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  • [Title] Transient abnormal myelopoiesis in a Down syndrome newborn followed by acute myeloid leukemia: identification of the same chromosomal abnormality in both stages.
  • Ten months after the patient achieved remission, the transient abnormal myelopoiesis evolved to an acute megakaryoblastic leukemia.
  • Cytogenetic study revealed only a single clonal abnormality, 47,XY,der(7)t(1;7)(q25;p15),+21c, identical to one of the structural changes seen at birth.
  • It may be that the der(7)t(1;7)(q25;p15) abnormality played some selective role in the development of acute megakaryoblastic leukemia in this patient.
  • To our knowledge, the present case is unique in demonstrating a subclone with der(7)t(1;7)(q25;p15) evolving to acute leukemia.
  • [MeSH-major] Chromosome Aberrations. Down Syndrome / genetics. Leukemia, Myeloid, Acute / genetics. Myelopoiesis / genetics

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  • [ErratumIn] Cancer Genet Cytogenet. 2009 Apr 15;190(2):134
  • (PMID = 19100513.001).
  • [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 / Codon, Terminator; 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human
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56. 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
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  • [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.

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  • (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
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57. 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

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  • [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
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58. 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
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  • [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


59. 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
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  • [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

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  • (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
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60. Kearney L, Gonzalez De Castro D, Yeung J, Procter J, Horsley SW, Eguchi-Ishimae M, Bateman CM, Anderson K, Chaplin T, Young BD, Harrison CJ, Kempski H, So CW, Ford AM, Greaves M: Specific JAK2 mutation (JAK2R683) and multiple gene deletions in Down syndrome acute lymphoblastic leukemia. Blood; 2009 Jan 15;113(3):646-8
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  • [Title] Specific JAK2 mutation (JAK2R683) and multiple gene deletions in Down syndrome acute lymphoblastic leukemia.
  • Children with Down syndrome (DS) have a greatly increased risk of acute megakaryoblastic leukemia (AMKL) and acute lymphoblastic leukemia (ALL).
  • Both DS-AMKL and the related transient myeloproliferative disorder (TMD) have GATA1 mutations as obligatory, early events.
  • [MeSH-major] Down Syndrome / genetics. Janus Kinase 2 / genetics. Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics


61. Kurkjian C, Patel S, Kamble R, Dunn ST, Kern W, Kharfan-Dabaja MA: Acute promyelocytic leukemia and constitutional trisomy 21. Cancer Genet Cytogenet; 2006 Mar;165(2):176-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Acute promyelocytic leukemia and constitutional trisomy 21.
  • The incidence of acute myelogenous leukemia (AML) in patients with constitutional trisomy 21 is estimated to be 1 in 300; it is usually seen before age four.
  • Clinical and epidemiological data confirm the improved life expectancy of patients with Down syndrome and their increased susceptibility to the development of leukemia, among other cancers.
  • The most frequent subtype of AML associated with Down syndrome is acute megakaryoblastic leukemia (FAB: M7).
  • The description of acute promyelocytic leukemia (APL) in adult patients with Down syndrome is exceedingly rare.
  • [MeSH-major] Down Syndrome. Leukemia, Promyelocytic, Acute / genetics

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  • (PMID = 16527614.001).
  • [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
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62. Muntean AG, Ge Y, Taub JW, Crispino JD: Transcription factor GATA-1 and Down syndrome leukemogenesis. Leuk Lymphoma; 2006 Jun;47(6):986-97
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Recently, acquired mutations in the megakaryocytic regulator GATA1 have been found in essentially all cases of acute megakaryoblastic leukemia (AMkL) in children with Down syndrome and in the closely related malignancy transient myeloproliferative disorder.
  • Because GATA-1s retains both DNA binding zinc fingers, but is missing the N-terminal transactivation domain, it has been predicted that the inability of GATA-1s to regulate its normal class of megakaryocytic target genes is the mechanism by which mutations in GATA1 contribute to the disease.
  • Indeed, several recent reports have confirmed that GATA-1s fails to properly regulate the growth of megakaryocytic precursors, likely through aberrant transcriptional regulation.
  • Finally, the inability of GATA-1s to promote expression of important metabolic genes, such as cytadine deaminase, likely contributes to the remarkable hypersensitivity of AMkL blasts to cytosine arabinoside.

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  • (PMID = 16840187.001).
  • [ISSN] 1042-8194
  • [Journal-full-title] Leukemia & lymphoma
  • [ISO-abbreviation] Leuk. Lymphoma
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / R01-CA101774; United States / NCI NIH HHS / CA / R01-CA092308; United States / NCI NIH HHS / CA / R01 CA101774; United States / NCI NIH HHS / CA / CA101774-04; 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; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human; 9007-49-2 / DNA
  • [Number-of-references] 91
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63. Ho K, Valdez F, Garcia R, Tirado CA: JAK2 Translocations in hematological malignancies: Review of the literature. J Assoc Genet Technol; 2010;36(3):107-9

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • It is involved in the regulation of different cytokines and growth factors and plays an important role in the diagnosis and treatment of myeloproliferative neoplasms (Smith et al., 2008).
  • Chromosome 9p24 abnormalities have been described in myeloid and lymphoid neoplasms including chronic myelogenous leukemia (CML), acute megakaryoblastic leukemia, CD10+ B-cell acute lymphoblastic leukemia, T-cell ALL and chronic myeloproliferative disorders (CMD) (Smith et al., 2008; Lacronique et al., 1997).

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  • (PMID = 20978341.001).
  • [ISSN] 1523-7834
  • [Journal-full-title] Journal of the Association of Genetic Technologists
  • [ISO-abbreviation] J Assoc Genet Technol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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64. Cornejo MG, Boggon TJ, Mercher T: JAK3: a two-faced player in hematological disorders. Int J Biochem Cell Biol; 2009 Dec;41(12):2376-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Recent data indicate that abnormal activation of JAK3 due to activating mutations is also found in human hematological malignancies, including acute megakaryoblastic leukemia (AMKL) and cutaneous T cell lymphoma (CTCL).

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  • (PMID = 19747563.001).
  • [ISSN] 1878-5875
  • [Journal-full-title] The international journal of biochemistry & cell biology
  • [ISO-abbreviation] Int. J. Biochem. Cell Biol.
  • [Language] ENG
  • [Grant] United States / NIAID NIH HHS / AI / AI075133-03; United States / NIAID NIH HHS / AI / R01 AI075133; United States / NIAID NIH HHS / AI / R01 AI075133-03
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Interleukin Receptor Common gamma Subunit; 0 / Piperidines; 0 / Pyrimidines; 0 / Pyrroles; 0 / Receptors, Cytokine; 87LA6FU830 / tofacitinib; EC 2.7.10.2 / Janus Kinase 3
  • [Number-of-references] 24
  • [Other-IDs] NLM/ NIHMS190724; NLM/ PMC2853879
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65. 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.

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  • (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
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66. Li Z, Godinho FJ, Klusmann JH, Garriga-Canut M, Yu C, Orkin SH: Developmental stage-selective effect of somatically mutated leukemogenic transcription factor GATA1. Nat Genet; 2005 Jun;37(6):613-9
The Lens. Cited by Patents in .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Acquired mutations in the hematopoietic transcription factor GATA binding protein-1 (GATA1) are found in megakaryoblasts from nearly all individuals with Down syndrome with transient myeloproliferative disorder (TMD, also called transient leukemia) and the related acute megakaryoblastic leukemia (DS-AMKL, also called DS-AML M7).
  • To understand the biological properties of GATA1s and its relation to DS-AMKL and TMD, we used gene targeting to generate Gata1 alleles that express GATA1s in mice.
  • We show that the dominant action of GATA1s leads to hyperproliferation of a unique, previously unrecognized yolk sac and fetal liver progenitor, which we propose accounts for the transient nature of TMD and the restriction of DS-AMKL to infants.
  • Our observations raise the possibility that the target cells in other leukemias of infancy and early childhood are distinct from those in adult leukemias and underscore the interplay between specific oncoproteins and potential target cells.
  • [MeSH-minor] Adult. Age Factors. Animals. Cell Differentiation. Cells, Cultured. Down Syndrome / genetics. Embryo, Mammalian. Erythroid-Specific DNA-Binding Factors. GATA1 Transcription Factor. Gene Targeting. Hematopoiesis / genetics. Humans. Infant. Leukemia, Megakaryoblastic, Acute / genetics. Liver / cytology. Liver / embryology. Megakaryocytes. Mice. Transfection


67. Maki K, Yamagata T, Mitani K: Role of the RUNX1-EVI1 fusion gene in leukemogenesis. Cancer Sci; 2008 Oct;99(10):1878-83
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.
  • RUNX1-EVI1 is a chimeric gene generated by t(3;21)(q26;q22) observed in patients with aggressive transformation of myelodysplastic syndrome or chronic myelogenous leukemia.
  • RUNX1-EVI1 has oncogenic potentials through dominant-negative effect over wild-type RUNX1, inhibition of Jun kinase (JNK) pathway, stimulation of cell growth via AP-1, suppression of TGF-beta-mediated growth inhibition and repression of C/EBPalpha.
  • Runx1-EVI1 heterozygous knock-in mice die in uteri due to central nervous system (CNS) hemorrhage and severe defects in definitive hematopoiesis as Runx1-/- mice do, indicating that RUNX1-EVI1 dominantly suppresses functions of wild-type RUNX1 in vivo.
  • Acute myelogenous leukemia is induced in mice transplanted with bone marrow cells expressing RUNX1-EVI1, and a Runx1-EVI1 knock-in chimera mouse developed acute megakaryoblastic leukemia.
  • These results suggest that RUNX1-EVI1 plays indispensable roles in leukemogenesis of t(3;21)-positive leukemia.
  • Histone deacetyltransferase could be a target in molecular therapy of RUNX1-EVI1-expressing leukemia.
  • [MeSH-major] Core Binding Factor Alpha 2 Subunit / genetics. DNA-Binding Proteins. Leukemia / genetics. Oncogene Proteins, Fusion / genetics. Proto-Oncogenes. Transcription Factors

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  • (PMID = 19016745.001).
  • [ISSN] 1349-7006
  • [Journal-full-title] Cancer science
  • [ISO-abbreviation] Cancer Sci.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Core Binding Factor Alpha 2 Subunit; 0 / DNA-Binding Proteins; 0 / Evi1 protein, mouse; 0 / MECOM protein, human; 0 / Oncogene Proteins, Fusion; 0 / Transcription Factors; EC 1.1.- / Alcohol Oxidoreductases; EC 1.1.1.- / C-terminal binding protein
  • [Number-of-references] 75
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68. 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.

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  • (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
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69. 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

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  • (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
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70. Crispino JD: GATA1 in normal and malignant hematopoiesis. Semin Cell Dev Biol; 2005 Feb;16(1):137-47
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] GATA1 in normal and malignant hematopoiesis.
  • Furthermore, few would have guessed that missense mutations in GATA1 would cause inherited blood disorders, while acquired mutations would be found associated with essentially all cases of acute megakaryoblastic leukemia (AMKL) in children with Down syndrome (DS).
  • With respect to the latter disorder, the presence of a GATA1 mutation is now arguably the defining feature of this leukemia.
  • In this review, I will summarize our current knowledge of the role of GATA-1 in normal development, and discuss how mutations in GATA1 lead to abnormal and malignant hematopoiesis.

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  • (PMID = 15659348.001).
  • [ISSN] 1084-9521
  • [Journal-full-title] Seminars in cell & developmental biology
  • [ISO-abbreviation] Semin. Cell Dev. Biol.
  • [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; United States / NIDDK NIH HHS / DK / R01-DK61464
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.; 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] 94
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71. Hsiao HH, Yang MY, Liu YC, Hsiao HP, Tseng SB, Chao MC, Liu TC, Lin SF: RBM15-MKL1 (OTT-MAL) fusion transcript in an adult acute myeloid leukemia patient. Am J Hematol; 2005 May;79(1):43-5
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  • [Title] RBM15-MKL1 (OTT-MAL) fusion transcript in an adult acute myeloid leukemia patient.
  • The t(1;22)(p13;q13) is a nonrandom chromosomal abnormality in acute leukemia with the fusion oncogene, RBM15-MKL1 (OTT-MAL), identified recently.
  • However, this abnormality has been described only in infants and young children with acute megakaryoblastic leukemia (AMKL).
  • We report a 59-year-old male patient with the diagnosis of acute myeloid leukemia, subtype M1, who harbors an abnormal chromosome +der(1)t(1;22)(p13;q13).
  • This unusual abnormality is rare in adult cases of leukemia, and in children it is restricted to AMKL.
  • [MeSH-major] Chromosomes, Human, Pair 1. Chromosomes, Human, Pair 5. DNA-Binding Proteins / genetics. Leukemia, Myeloid / genetics. Oncogene Proteins, Fusion / genetics. RNA-Binding Proteins / genetics. Translocation, Genetic
  • [MeSH-minor] Acute Disease. Adult. Base Sequence. DNA Primers. Humans. Male. Reverse Transcriptase Polymerase Chain Reaction. Trans-Activators

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  • [Copyright] 2005 Wiley-Liss, Inc.
  • (PMID = 15849773.001).
  • [ISSN] 0361-8609
  • [Journal-full-title] American journal of hematology
  • [ISO-abbreviation] Am. J. Hematol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA Primers; 0 / DNA-Binding Proteins; 0 / MKL1 protein, human; 0 / Oncogene Proteins, Fusion; 0 / RBM15 protein, human; 0 / RNA-Binding Proteins; 0 / Trans-Activators
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72. Jarmuz M, Kroll R, Przybyłowicz-Chalecka A, Ratajczak B, Gniot M, Szyfter K, Komarnicki M: Megakaryocytic blast crisis in a chronic myeloid leukemia patient with a rare variant of Philadelphia rearrangement t(9;22;22) and a constitutional translocation t(3;7). Cancer Genet Cytogenet; 2010 May;199(1):45-7
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  • [Title] Megakaryocytic blast crisis in a chronic myeloid leukemia patient with a rare variant of Philadelphia rearrangement t(9;22;22) and a constitutional translocation t(3;7).
  • Megakaryocytic blast crisis occurs extremely rarely, accounting for <3% of cases of chronic myelogenous leukemia in blastic transformation.
  • In chronic myeloid leukemia, a variant Philadelphia translocation is reported in 2-10% of cases.
  • We report an unusual case of megakaryocytic blast crisis with the Philadelphia variant rearrangement t(9;22;22) and a constitutional translocation t(3;7).
  • The chromosome region 22q13 harbors MKL1 gene, which is engaged in a specific translocation associated with acute megakaryoblastic leukemia.
  • Study of deregulation of these four genes could contribute to better understanding of the effects of the t(9;22;22) rearrangement in a megakaryocytic blast crisis.
  • [MeSH-major] Blast Crisis / genetics. Blast Crisis / pathology. Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics. Leukemia, Myelogenous, Chronic, BCR-ABL Positive / pathology. Megakaryocytes / pathology. Philadelphia Chromosome

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  • [Copyright] 2010 Elsevier Inc. All rights reserved.
  • (PMID = 20417868.001).
  • [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
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73. Ma X, Renda MJ, Wang L, Cheng EC, Niu C, Morris SW, Chi AS, Krause DS: Rbm15 modulates Notch-induced transcriptional activation and affects myeloid differentiation. Mol Cell Biol; 2007 Apr;27(8):3056-64
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  • [Title] Rbm15 modulates Notch-induced transcriptional activation and affects myeloid differentiation.
  • RBM15 is the fusion partner with MKL in the t(1;22) translocation of acute megakaryoblastic leukemia.
  • To understand the role of the RBM15-MKL1 fusion protein in leukemia, we must understand the normal functions of RBM15 and MKL.
  • Decreasing Rbm15 levels with RNA interference enhances differentiation of the 32DWT18 myeloid precursor cell line.
  • We show that Rbm15 alters Notch-induced HES1 promoter activity in a cell type-specific manner.
  • Thus, Rbm15 is differentially expressed during hematopoiesis and may act to inhibit myeloid differentiation in hematopoietic cells via a mechanism that is mediated by stimulation of Notch signaling via RBPJkappa.

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  • (PMID = 17283045.001).
  • [ISSN] 0270-7306
  • [Journal-full-title] Molecular and cellular biology
  • [ISO-abbreviation] Mol. Cell. Biol.
  • [Language] ENG
  • [Grant] United States / NHLBI NIH HHS / HL / HL63357; United States / NIDDK NIH HHS / DK / DK053037; United States / NCI NIH HHS / CA / CA21765; United States / NIDDK NIH HHS / DK / DK0724429; United States / NCI NIH HHS / CA / P30 CA021765; United States / NHLBI NIH HHS / HL / P01 HL063357
  • [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 / Basic Helix-Loop-Helix Transcription Factors; 0 / Drosophila Proteins; 0 / Hes1 protein, mouse; 0 / Homeodomain Proteins; 0 / Immunoglobulin J Recombination Signal Sequence-Binding Protein; 0 / Nuclear Proteins; 0 / RNA, Messenger; 0 / RNA, Small Interfering; 0 / RNA-Binding Proteins; 0 / Rbm15 protein, mouse; 0 / Receptors, Notch; 0 / Spen protein, mouse
  • [Other-IDs] NLM/ PMC1899951
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74. Chou ST, Opalinska JB, Yao Y, Fernandes MA, Kalota A, Brooks JS, Choi JK, Gewirtz AM, Danet-Desnoyers GA, Nemiroff RL, Weiss MJ: Trisomy 21 enhances human fetal erythro-megakaryocytic development. Blood; 2008 Dec 1;112(12):4503-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Trisomy 21 enhances human fetal erythro-megakaryocytic development.
  • Children with Down syndrome exhibit 2 related hematopoietic diseases: transient myeloproliferative disorder (TMD) and acute megakaryoblastic leukemia (AMKL).
  • Both exhibit clonal expansion of blasts with biphenotypic erythroid and megakaryocytic features and contain somatic GATA1 mutations.
  • While altered GATA1 inhibits erythro-megakaryocytic development, less is known about how trisomy 21 impacts blood formation, particularly in the human fetus where TMD and AMKL originate.
  • Remarkably, trisomy 21 progenitors exhibited enhanced production of erythroid and megakaryocytic cells that proliferated excessively.
  • Our findings indicate that trisomy 21 itself is associated with cell-autonomous expansion of erythro-megakaryocytic progenitors.
  • This may predispose to TMD and AMKL by increasing the pool of cells susceptible to malignant transformation through acquired mutations in GATA1 and other cooperating genes.

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  • (PMID = 18812473.001).
  • [ISSN] 1528-0020
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] ENG
  • [Grant] United States / NIDDK NIH HHS / DK / R01 DK061692; United States / NCRR NIH HHS / RR / UL1 RR024134; United States / NCRR NIH HHS / RR / UL1-RR-024134
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Other-IDs] NLM/ PMC2597125
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75. Haan S, Wüller S, Kaczor J, Rolvering C, Nöcker T, Behrmann I, Haan C: SOCS-mediated downregulation of mutant Jak2 (V617F, T875N and K539L) counteracts cytokine-independent signaling. Oncogene; 2009 Aug 27;28(34):3069-80
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  • Recently, mutations in the gene of Janus kinase 2 (Jak2) were discovered in patients suffering from chronic myeloproliferative disorders (MPD) and leukemia.
  • We selected two mutants, Jak2-V617F and Jak2-K539L, found in patients with MPDs and Jak2-T875N identified in acute megakaryoblastic leukemia.
  • We found SOCS family members to be induced through Jak2-V617F in human leukemia cell lines expressing the mutant allele and in stable HEK transfectants inducibly expressing constitutively active Jak2 mutants.
  • In contrast to wild-type Jak2, the mutant proteins were constitutively ubiquitinated and degraded through the proteasome.
  • Taken together, we show a SOCS-mediated downregulation of the constitutively active, disease-associated mutant Jak2 proteins.
  • Furthermore, a threshold level of mutant Jak expression has to be overcome to allow full cytokine-independent constitutive activation of signaling proteins, which may explain progression to homozygocity in MPDs as well as gene amplification in severe phenotypes and leukemia.

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  • (PMID = 19543316.001).
  • [ISSN] 1476-5594
  • [Journal-full-title] Oncogene
  • [ISO-abbreviation] Oncogene
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Cytokines; 0 / RNA, Messenger; 0 / SOCS1 protein, human; 0 / SOCS3 protein, human; 0 / STAT5 Transcription Factor; 0 / Suppressor of Cytokine Signaling Proteins; EC 2.7.10.2 / JAK2 protein, human; EC 2.7.10.2 / Janus Kinase 2; EC 3.4.25.1 / Proteasome Endopeptidase Complex
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76. Hollanda LM, Lima CS, Cunha AF, Albuquerque DM, Vassallo J, Ozelo MC, Joazeiro PP, Saad ST, Costa FF: An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis. Nat Genet; 2006 Jul;38(7):807-12
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Acquired somatic mutations in exon 2 of the hematopoietic transcription factor GATA-1 have been found in individuals with Down syndrome with both transient myeloproliferative disorder and acute megakaryoblastic leukemia.
  • Moreover, this is the first study to indicate that a germline splicing mutation does not lead to leukemia in the absence of other cooperating events, such as Down syndrome.

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  • [CommentIn] Nat Genet. 2006 Jul;38(7):741-2 [16804537.001]
  • (PMID = 16783379.001).
  • [ISSN] 1061-4036
  • [Journal-full-title] Nature genetics
  • [ISO-abbreviation] Nat. Genet.
  • [Language] eng
  • [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 / Protein Isoforms
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77. Stankiewicz MJ, Crispino JD: ETS2 and ERG promote megakaryopoiesis and synergize with alterations in GATA-1 to immortalize hematopoietic progenitor cells. Blood; 2009 Apr 2;113(14):3337-47
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  • People with Down syndrome (DS), who are trisomic for Hsa21, are predisposed to acute megakaryoblastic leukemia (AMKL).
  • DS-AMKL blasts harbor a mutation in GATA1, which leads to loss of full-length protein but expression of the GATA-1s isoform.
  • To assess the consequences of ETS protein misexpression on megakaryopoiesis, we expressed ETS2, ERG, and the related protein FLI-1 in wild-type and Gata1 mutant murine fetal liver progenitors.
  • These studies revealed that ETS2, ERG, and FLI-1 facilitated the expansion of megakaryocytes from wild-type, Gata1-knockdown, and Gata1s knockin progenitors, but none of the genes could overcome the differentiation block characteristic of the Gata1-knockdown megakaryocytes.
  • Serial replating assays revealed that overexpression of ERG or FLI-1 immortalized Gata1-knockdown and Gata1s knockin, but not wild-type, fetal liver progenitors.
  • Immortalization was accompanied by activation of the JAK/STAT pathway, commonly seen in megakaryocytic malignancies.

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  • [CommentIn] Blood. 2009 Oct 22;114(17):3717-8 [19850750.001]
  • (PMID = 19168790.001).
  • [ISSN] 1528-0020
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA101774-07; United States / NCI NIH HHS / CA / R01 CA101774; United States / NCI NIH HHS / CA / R01 CA101774-07
  • [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 / ERG protein, mouse; 0 / Ets2 protein, mouse; 0 / GATA1 Transcription Factor; 0 / Gata1 protein, mouse; 0 / Oncogene Proteins; 0 / Proto-Oncogene Protein c-ets-2; 0 / Transcription Factors
  • [Other-IDs] NLM/ PMC2665899
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78. Kirsammer G, Jilani S, Liu H, Davis E, Gurbuxani S, Le Beau MM, Crispino JD: Highly penetrant myeloproliferative disease in the Ts65Dn mouse model of Down syndrome. Blood; 2008 Jan 15;111(2):767-75
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  • [Title] Highly penetrant myeloproliferative disease in the Ts65Dn mouse model of Down syndrome.
  • Children with Down syndrome (DS) display macrocytosis, thrombocytosis, and a 500-fold increased risk of developing megakaryocytic leukemia; however, the specific effects of trisomy 21 on hematopoiesis remain poorly defined.
  • We discovered that Ts65Dn mice display persistent macrocytosis and develop a myeloproliferative disease (MPD) characterized by profound thrombocytosis, megakaryocyte hyperplasia, dysplastic megakaryocyte morphology, and myelofibrosis.
  • In addition, these animals bear distorted hematopoietic stem and myeloid progenitor cell compartments compared with euploid control littermates.
  • Of the 104 trisomic genes in Ts65Dn mice, Aml1/Runx1 attracts considerable attention as a candidate oncogene in DS-acute megakaryoblastic leukemia (DS-AMKL).
  • Surprisingly, trisomy for Aml1/Runx1 is not required for megakaryocyte hyperplasia and myelofibrosis, suggesting that trisomy for one or more of the remaining genes can promote this disease.

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  • (PMID = 17901249.001).
  • [ISSN] 0006-4971
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA101774-06; United States / NCI NIH HHS / CA / R01 CA101774; United States / NCI NIH HHS / CA / R01 CA101774-06
  • [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 / Core Binding Factor Alpha 2 Subunit; 0 / Oncogene Proteins; 0 / Runx1 protein, mouse
  • [Other-IDs] NLM/ PMC2200841
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79. Bhargava P, Kallakury BV, Ross JS, Azumi N, Bagg A: CD79a is heterogeneously expressed in neoplastic and normal myeloid precursors and megakaryocytes in an antibody clone-dependent manner. Am J Clin Pathol; 2007 Aug;128(2):306-13
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  • [Title] CD79a is heterogeneously expressed in neoplastic and normal myeloid precursors and megakaryocytes in an antibody clone-dependent manner.
  • The reported frequency of CD79a expression in acute myeloid leukemias (AML) ranges from 0% to 90%.
  • Of 7 acute promyelocytic leukemia (APL) cases, 6 (86%) stained for CD79a with clones HM47/A9 (Novocastra, Newcastle Upon Tyne, England) and HM57 (DAKO, Carpinteria, CA) but were negative with clones 11E3 (Novocastra), and JCB117 (DAKO).
  • Half of 6 acute megakaryoblastic leukemia (AMKL) cases and normal megakaryocytes in 14 (67%) of 21 cases were immunoreactive using clone 11D10 (Novocastra).
  • Approximately one third of non-APL/non-AMKL AML and myeloid precursors in normal marrow specimens stained with clones HM57 and 11D10.
  • This heterogeneity of CD79a expression in AML, megakaryocytes, and myeloid precursors is MoAb clone-dependent, likely owing to different epitope detection, and may be of diagnostic usefulness.
  • [MeSH-major] Antigens, CD79 / analysis. Bone Marrow Cells / chemistry. Leukemia, Myeloid, Acute / metabolism. Megakaryocytes / chemistry

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  • (PMID = 17638667.001).
  • [ISSN] 0002-9173
  • [Journal-full-title] American journal of clinical pathology
  • [ISO-abbreviation] Am. J. Clin. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antibodies, Monoclonal; 0 / Antigens, CD79; 0 / CD79A protein, human
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80. Cheng EC, Luo Q, Bruscia EM, Renda MJ, Troy JA, Massaro SA, Tuck D, Schulz V, Mane SM, Berliner N, Sun Y, Morris SW, Qiu C, Krause DS: Role for MKL1 in megakaryocytic maturation. Blood; 2009 Mar 19;113(12):2826-34
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  • [Title] Role for MKL1 in megakaryocytic maturation.
  • Megakaryoblastic leukemia 1 (MKL1), identified as part of the t(1;22) translocation specific to acute megakaryoblastic leukemia, is highly expressed in differentiated muscle cells and promotes muscle differentiation by activating serum response factor (SRF).
  • Here we show that Mkl1 expression is up-regulated during murine megakaryocytic differentiation and that enforced overexpression of MKL1 enhances megakaryocytic differentiation.
  • MKL1 overexpression also promotes megakaryocytic differentiation of primary human CD34(+) cells cultured in the presence of thrombopoietin.

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  • (PMID = 19136660.001).
  • [ISSN] 1528-0020
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] ENG
  • [Grant] United States / NHLBI NIH HHS / HL / T32-HL07262; United States / NIDDK NIH HHS / DK / P30 DK072442; United States / NIDDK NIH HHS / DK / T32-DK07556; United States / NHLBI NIH HHS / HL / HL63357; United States / NCI NIH HHS / CA / CA21765; United States / NCI NIH HHS / CA / P30 CA021765; United States / NHLBI NIH HHS / HL / P01 HL063357; United States / NIDDK NIH HHS / DK / T32 DK007556; United States / NHLBI NIH HHS / HL / T32 HL007262; United States / NHLBI NIH HHS / HV / N01-HV-28 186; United States / NIDDK NIH HHS / DK / DK072442; United States / NIDDK NIH HHS / DK / R01 DK086267
  • [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-Binding Proteins; 0 / MKL1 protein, human; 0 / MKL1 protein, mouse; 0 / Oncogene Proteins, Fusion; 0 / RNA, Small Interfering; 0 / Recombinant Fusion Proteins; 0 / Serum Response Factor; 0 / Trans-Activators; 9014-42-0 / Thrombopoietin
  • [Other-IDs] NLM/ PMC2661865
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81. Pine SR, Guo Q, Yin C, Jayabose S, Druschel CM, Sandoval C: Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome. Blood; 2007 Sep 15;110(6):2128-31
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  • Somatic mutations in the GATA1 gene are present in almost all cases of Down syndrome (DS)-associated acute megakaryoblastic leukemia (AMKL) and transient leukemia (TL).
  • Two newborns with a GATA1 mutation subsequently developed AMKL, and none of the infants without a functional GATA1 mutation were reported to have developed leukemia.
  • In addition to screening for TL, a GATA1 mutation at birth might serve as a biomarker for an increased risk of DS-related AMKL.
  • [MeSH-major] Down Syndrome / genetics. GATA1 Transcription Factor / genetics. Leukemia, Megakaryoblastic, Acute / genetics. Mutation / genetics

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  • (PMID = 17576817.001).
  • [ISSN] 0006-4971
  • [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 / GATA1 Transcription Factor; 0 / GATA1 protein, human
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82. Yanagida M, Osato M, Yamashita N, Liqun H, Jacob B, Wu F, Cao X, Nakamura T, Yokomizo T, Takahashi S, Yamamoto M, Shigesada K, Ito Y: Increased dosage of Runx1/AML1 acts as a positive modulator of myeloid leukemogenesis in BXH2 mice. Oncogene; 2005 Jun 30;24(28):4477-85
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  • [Title] Increased dosage of Runx1/AML1 acts as a positive modulator of myeloid leukemogenesis in BXH2 mice.
  • The RUNX1/AML1 gene on chromosome 21 is most frequently inactivated in human leukemias.
  • In addition, an increased dose of RUNX1 is suggested as a basis for several kinds of leukemias.
  • Amplifications of chromosome 21 or the RUNX1 gene are shown to be associated with leukemias with lymphoid lineage, whereas its involvement in myeloid lineage remains unclear.
  • In this study, we generated GATA-1 promoter-driven Runx1 transgenic (Tg) mice, which showed a transient mild increase of megakaryocyte marker-positive myeloid cells but no spontaneous leukemia.
  • These mice were then crossed with BXH2 mice, which have a replication-competent retrovirus in the mouse and develop myeloid leukemia due to insertional mutagenesis by random integration of the virus.
  • Overexpressed Runx1 transgene in BXH2 mice resulted in shortening of the latency of leukemia with increased frequency of megakaryoblastic leukemia, suggesting that increased Runx1 dosage is leukemogenic in myeloid lineage.
  • Identifications of retroviral integration sites revealed the genetic alterations that may cooperate with Runx1 overdose in myeloid leukemogenesis.
  • This mouse model may be useful for analysing the pathogenesis of myeloid leukemias with RUNX1 overdose, especially to examine whether an extra-copy of RUNX1 by trisomy 21 is causally related to Down's syndrome-related acute megakaryoblastic leukemia (DS-AMKL).
  • [MeSH-major] DNA-Binding Proteins / genetics. Gene Dosage. Leukemia, Myeloid / genetics. Proto-Oncogene Proteins / genetics. Transcription Factors / genetics
  • [MeSH-minor] Animals. Core Binding Factor Alpha 2 Subunit. DNA Transposable Elements. Disease Models, Animal. Erythroid-Specific DNA-Binding Factors. GATA1 Transcription Factor. Gene Expression Regulation, Leukemic. Humans. Integrin beta3 / genetics. Integrin beta3 / immunology. Leukocytes / immunology. Leukocytes / pathology. Mice. Mice, Mutant Strains. Mice, Transgenic. Promoter Regions, Genetic. Retroviridae / genetics

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  • (PMID = 15856017.001).
  • [ISSN] 0950-9232
  • [Journal-full-title] Oncogene
  • [ISO-abbreviation] Oncogene
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Core Binding Factor Alpha 2 Subunit; 0 / DNA Transposable Elements; 0 / DNA-Binding Proteins; 0 / Erythroid-Specific DNA-Binding Factors; 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human; 0 / Gata1 protein, mouse; 0 / Integrin beta3; 0 / Proto-Oncogene Proteins; 0 / RUNX1 protein, human; 0 / Runx1 protein, mouse; 0 / Transcription Factors
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83. Stachura DL, Chou ST, Weiss MJ: Early block to erythromegakaryocytic development conferred by loss of transcription factor GATA-1. Blood; 2006 Jan 1;107(1):87-97
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  • Importantly, on restoration of GATA-1 function, these cells differentiated into both erythroid and megakaryocytic lineages, suggesting that they represent bipotential progenitors.
  • This defines a new role for GATA-1 at a relatively early stage of hematopoiesis and provides potential insight into recent discoveries that human GATA1 mutations promote acute megakaryoblastic leukemia, a clonal malignancy with features of both erythroid and megakaryocyte maturation.

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  • (PMID = 16144799.001).
  • [ISSN] 0006-4971
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] ENG
  • [Grant] United States / NIDDK NIH HHS / DK / R01 DK061692; United States / NIDDK NIH HHS / DK / R01 DK064037; United States / NHLBI NIH HHS / HL / T32 HL007150-27; United States / NHLBI NIH HHS / HL / T32-HL007971-04
  • [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, mouse; 9014-42-0 / Thrombopoietin
  • [Other-IDs] NLM/ PMC1895362
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84. Scharenberg MA, Chiquet-Ehrismann R, Asparuhova MB: Megakaryoblastic leukemia protein-1 (MKL1): Increasing evidence for an involvement in cancer progression and metastasis. Int J Biochem Cell Biol; 2010 Dec;42(12):1911-4
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  • [Title] Megakaryoblastic leukemia protein-1 (MKL1): Increasing evidence for an involvement in cancer progression and metastasis.
  • Megakaryoblastic leukemia protein-1 (MKL1), also termed MAL, MRTF-A, and BSAC, belongs to the MRTF family of transcription factors that share evolutionary conserved domains required for actin-binding, homo- and heterodimerization, high-order chromatin organization and transcriptional activation.
  • MKL1 regulates many processes, including muscle cell differentiation, cardiovascular development, remodeling of neuronal networks in the developing and adult brain, megakaryocytic differentiation and migration, modulation of cellular motile functions and epithelial-mesenchymal transition.
  • Moreover, deregulation by genetic alterations and/or altered expression of MKL1 can contribute to a number of pathological processes such as coronary artery disease, sarcopenia, acute megakaryoblastic leukemia, and cancer.
  • [MeSH-minor] Animals. Disease Progression. Humans. Neoplasm Metastasis

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  • [Copyright] Copyright © 2010 Elsevier Ltd. All rights reserved.
  • (PMID = 20816842.001).
  • [ISSN] 1878-5875
  • [Journal-full-title] The international journal of biochemistry & cell biology
  • [ISO-abbreviation] Int. J. Biochem. Cell Biol.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / DNA-Binding Proteins; 0 / MKL1 protein, human; 0 / MKL1 protein, mouse; 0 / Oncogene Proteins, Fusion; 0 / Trans-Activators
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85. Shimizu R, Kobayashi E, Engel JD, Yamamoto M: Induction of hyperproliferative fetal megakaryopoiesis by an N-terminally truncated GATA1 mutant. Genes Cells; 2009 Sep;14(9):1119-31
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  • Two GATA1-related leukemias have been described: one is an erythroleukemia that develops in mice as a consequence of diminished expression of wild-type GATA1, whereas the other is an acute megakaryoblastic leukemia (AMKL) that arises in Down syndrome children as a consequence of somatic N-terminal truncation (DeltaNT) of GATA1.
  • We discovered that mice expressing the shortened GATA1 protein (DeltaNTR mice) phenocopies the human transient myeloproliferative disorder (TMD) that precedes AMKL in Down syndrome children.
  • In perinatal livers of the DeltaNTR mutant mice, immature megakaryocytes accumulate massively, and this fraction contains cells that form hyperproliferative megakaryocytic colonies.
  • [MeSH-major] Fetal Diseases. GATA1 Transcription Factor / genetics. Leukemia, Megakaryoblastic, Acute. Mutation
  • [MeSH-minor] Animals. Bone Marrow. Cell Differentiation. Cells, Cultured. Disease Models, Animal. Down Syndrome / genetics. Down Syndrome / physiopathology. Embryo, Mammalian. Female. Humans. Megakaryocytes / cytology. Megakaryocytes / pathology. Mice. Mice, Transgenic. Myeloproliferative Disorders / genetics. Myeloproliferative Disorders / physiopathology

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  • (PMID = 19682090.001).
  • [ISSN] 1365-2443
  • [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 / GATA1 Transcription Factor; 0 / GATA1 protein, human
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86. Klusmann JH, Godinho FJ, Heitmann K, Maroz A, Koch ML, Reinhardt D, Orkin SH, Li Z: Developmental stage-specific interplay of GATA1 and IGF signaling in fetal megakaryopoiesis and leukemogenesis. Genes Dev; 2010 Aug 1;24(15):1659-72
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  • Oncogene-mediated transformation of hematopoietic cells has been studied extensively, but little is known about the molecular basis for restriction of oncogenes to certain target cells and differential cellular context-specific requirements for oncogenic transformation between infant and adult leukemias.
  • Understanding cell type-specific interplay of signaling pathways and oncogenes is essential for developing targeted cancer therapies.
  • Here, we address the vexing issue of how developmental restriction is achieved in Down syndrome acute megakaryoblastic leukemia (DS-AMKL), characterized by the triad of fetal origin, mutated GATA1 (GATA1s), and trisomy 21.
  • We demonstrate overactivity of insulin-like growth factor (IGF) signaling in authentic human DS-AMKL and in a DS-AMKL mouse model generated through retroviral insertional mutagenesis.
  • Fetal but not adult megakaryocytic progenitors are dependent on this pathway.

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  • (PMID = 20679399.001).
  • [ISSN] 1549-5477
  • [Journal-full-title] Genes & development
  • [ISO-abbreviation] Genes Dev.
  • [Language] ENG
  • [Grant] United States / NHLBI NIH HHS / HL / R01 HL032259; United States / Howard Hughes Medical Institute / /
  • [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 / E2F Transcription Factors; 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human; 0 / Gata1 protein, mouse; 0 / Intracellular Signaling Peptides and Proteins; 0 / Somatomedins; 0 / Transcription Factor DP1; EC 2.7.1.1 / MTOR protein, human; EC 2.7.1.1 / TOR Serine-Threonine Kinases; EC 2.7.1.1 / mTOR protein, mouse; EC 2.7.11.1 / Protein-Serine-Threonine Kinases
  • [Other-IDs] NLM/ PMC2912563
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87. 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
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  • [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

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  • (PMID = 15191953.001).
  • [ISSN] 0006-4971
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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88. Niu C, Zhang J, Breslin P, Onciu M, Ma Z, Morris SW: c-Myc is a target of RNA-binding motif protein 15 in the regulation of adult hematopoietic stem cell and megakaryocyte development. Blood; 2009 Sep 3;114(10):2087-96
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • RNA-binding motif protein 15 (RBM15) is involved in the RBM15-megakaryoblastic leukemia 1 fusion in acute megakaryoblastic leukemia.
  • Although Rbm15 has been reported to be required for B-cell differentiation and to inhibit myeloid and megakaryocytic expansion, it is not clear what the normal functions of Rbm15 are in the regulation of hematopoietic stem cell (HSC) and megakaryocyte development.

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  • (PMID = 19542301.001).
  • [ISSN] 1528-0020
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA21675
  • [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 / Myc protein, mouse; 0 / Proto-Oncogene Proteins c-myc; 0 / RNA-Binding Proteins; 0 / Rbm15 protein, mouse
  • [Other-IDs] NLM/ PMC2744570
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89. Tunstall-Pedoe O, Roy A, Karadimitris A, de la Fuente J, Fisk NM, Bennett P, Norton A, Vyas P, Roberts I: Abnormalities in the myeloid progenitor compartment in Down syndrome fetal liver precede acquisition of GATA1 mutations. Blood; 2008 Dec 1;112(12):4507-11
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Abnormalities in the myeloid progenitor compartment in Down syndrome fetal liver precede acquisition of GATA1 mutations.
  • Down syndrome (DS) children have a high frequency of acute megakaryoblastic leukemia (AMKL) in early childhood.
  • At least 2 in utero genetic events are required, although not sufficient, for DS-AMKL: trisomy 21 (T21) and N-terminal-truncating GATA1 mutations.
  • To investigate the role of T21 in DS-AMKL, we compared second trimester hemopoiesis in DS without GATA1 mutations to gestation-matched normal controls.
  • In all DS fetal livers (FLs), but not marrows, megakaryocyte-erythroid progenitor frequency was increased (55.9% +/- 4% vs 17.1% +/- 3%, CD34(+)CD38(+) cells; P < .001) with common myeloid progenitors (19.6% +/- 2% vs 44.0% +/- 7%) and granulocyte-monocyte (GM) progenitors (15.8% +/- 4% vs 34.5% +/- 9%) commensurately reduced.
  • These data indicate that T21 itself profoundly disturbs FL hemopoiesis and they provide a testable hypothesis to explain the increased susceptibility to GATA1 mutations in DS-AMKL and DS-associated transient myeloproliferative disorder.
  • [MeSH-major] Congenital Abnormalities / genetics. Down Syndrome / complications. Down Syndrome / genetics. GATA1 Transcription Factor / genetics. Genetic Predisposition to Disease / etiology. Liver Diseases / genetics. Myeloid Progenitor Cells / pathology
  • [MeSH-minor] Antigens, CD34 / metabolism. Cell Count. Female. Humans. Leukemia, Megakaryoblastic, Acute / complications. Leukemia, Megakaryoblastic, Acute / embryology. Leukemia, Megakaryoblastic, Acute / genetics. Mutation / physiology. Pregnancy. Pregnancy Trimester, Second. Time Factors


90. 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
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  • [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

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  • (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
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91. Huang Z, Dore LC, Li Z, Orkin SH, Feng G, Lin S, Crispino JD: GATA-2 reinforces megakaryocyte development in the absence of GATA-1. Mol Cell Biol; 2009 Sep;29(18):5168-80
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Dysregulation of GATA-2 is a hallmark of acute megakaryoblastic leukemia in children with Down syndrome, a malignancy that is defined by the combination of trisomy 21 and a GATA1 mutation.
  • Surprisingly, GATA-2 also negatively regulates the expression of crucial myeloid transcription factors, such as Sfpi1 and Cebpa.
  • In the absence of GATA-1, GATA-2 prevents induction of a latent myeloid gene expression program.

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  • (PMID = 19620289.001).
  • [ISSN] 1098-5549
  • [Journal-full-title] Molecular and cellular biology
  • [ISO-abbreviation] Mol. Cell. Biol.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA101774-07; United States / NIGMS NIH HHS / GM / P50 GM081892; United States / NCI NIH HHS / CA / R01 CA101774; United States / NCI NIH HHS / CA / R01 CA101774-07
  • [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 / CCAAT-Enhancer-Binding Protein-alpha; 0 / GATA1 Transcription Factor; 0 / GATA2 Transcription Factor; 0 / Gata1 protein, mouse; 0 / Gata2 protein, mouse; 0 / Proto-Oncogene Proteins; 0 / Trans-Activators; 0 / proto-oncogene protein Spi-1
  • [Other-IDs] NLM/ PMC2738300
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92. 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

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  • (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
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93. Kudo K, Hama A, Kojima S, Ishii R, Morimoto A, Bessho F, Sunami S, Kobayashi N, Kinoshita A, Okimoto Y, Tawa A, Tsukimoto I: Mosaic Down syndrome-associated acute myeloid leukemia does not require high-dose cytarabine treatment for induction and consolidation therapy. Int J Hematol; 2010 May;91(4):630-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Mosaic Down syndrome-associated acute myeloid leukemia does not require high-dose cytarabine treatment for induction and consolidation therapy.
  • The present study aimed to identify optimal treatment intensity in children with mosaic Down syndrome (DS) and acute megakaryoblastic leukemia (AMKL).
  • A retrospective review of AMKL patients was undertaken to identify mosaic DS children.
  • Between November 1992 and November 2007, seven children were diagnosed as mosaic DS and AMKL.
  • The median age at diagnosis was 29 months (range 4-34 months).
  • UPN5 with GATA1 mutation suffered from acute pneumonia and pancreatitis and discontinued chemotherapy.
  • Our retrospective study reveals that patients with mosaic DS and AMKL have a good prognosis.
  • [MeSH-major] Antimetabolites, Antineoplastic / administration & dosage. Cytarabine / administration & dosage. Down Syndrome / genetics. Down Syndrome / mortality. Leukemia, Megakaryoblastic, Acute. Mosaicism
  • [MeSH-minor] Child, Preschool. Disease-Free Survival. Dose-Response Relationship, Drug. Female. GATA1 Transcription Factor / genetics. Humans. Infant. Male. Prevalence. Retrospective Studies. Survival Rate

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  • (PMID = 20237876.001).
  • [ISSN] 1865-3774
  • [Journal-full-title] International journal of hematology
  • [ISO-abbreviation] Int. J. Hematol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antimetabolites, Antineoplastic; 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human; 04079A1RDZ / Cytarabine
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94. Massey GV: Transient leukemia in newborns with Down syndrome. Pediatr Blood Cancer; 2005 Jan;44(1):29-32
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  • [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

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  • [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
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95. Sandoval C, Pine SR, Guo Q, Sastry S, Stewart J, Kronn D, Jayabose S: Tetrasomy 21 transient leukemia with a GATA1 mutation in a phenotypically normal trisomy 21 mosaic infant: case report and review of the literature. Pediatr Blood Cancer; 2005 Jan;44(1):85-91
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Tetrasomy 21 transient leukemia with a GATA1 mutation in a phenotypically normal trisomy 21 mosaic infant: case report and review of the literature.
  • Infants with constitutional trisomy 21 are at increased risk of developing transient and acute megakaryoblastic leukemia (AMKL).
  • Mutations in GATA1 have been identified in trisomy 21 patients with AMKL, and this lesion is thought to be an initial event by virtue of its presence during transient leukemia.
  • Transient leukemia is also observed in phenotypically normal infants albeit much less commonly so.
  • Almost all these infants are mosaic for trisomy 21, and the clinical course of transient leukemia recapitulates that observed in constitutional trisomy 21.
  • We report a phenotypically normal infant with tetrasomy 21 transient leukemia, GATA1 mutation within exon 2, and trisomy 21 mosaicism restricted to the hematopoietic tissue.
  • Two years after diagnosis, low levels of trisomy 21 persisted in the peripheral blood, which resolved 2.5 years after diagnosis.
  • The literature review identified 32 phenotypically normal infants with transient leukemia.
  • Ninety-one percent (29 of 32) were observed and three received chemotherapy at diagnosis of transient leukemia.
  • Nineteen percent (6 of 32) developed acute leukemia, and four continued in remission (two died).
  • Transient leukemia in trisomy 21 mosaicism recapitulates the condition observed in constitutional trisomy 21 at the biological and clinical levels.
  • Infants should be followed for the development of acute leukemia.
  • [MeSH-major] DNA-Binding Proteins / genetics. Down Syndrome / genetics. Leukemia, Megakaryoblastic, Acute / genetics. Transcription Factors / genetics

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  • [Copyright] (c) 2004 Wiley-Liss, Inc.
  • (PMID = 15390279.001).
  • [ISSN] 1545-5009
  • [Journal-full-title] Pediatric blood & cancer
  • [ISO-abbreviation] Pediatr Blood Cancer
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; 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] 46
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96. Massey GV, Zipursky A, Chang MN, Doyle JJ, Nasim S, Taub JW, Ravindranath Y, Dahl G, Weinstein HJ, Children's Oncology Group (COG): A prospective study of the natural history of transient leukemia (TL) in neonates with Down syndrome (DS): Children's Oncology Group (COG) study POG-9481. Blood; 2006 Jun 15;107(12):4606-13
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A prospective study of the natural history of transient leukemia (TL) in neonates with Down syndrome (DS): Children's Oncology Group (COG) study POG-9481.
  • A unique transient leukemia (TL) has been described in newborns with Down syndrome (DS; or trisomy 21 mosaics).
  • This leukemia has a high incidence of spontaneous remission; however, early death and subsequent development of acute megakaryoblastic leukemia (AMKL) have been reported.
  • We prospectively evaluated 48 infants with DS and TL to determine the natural history and biologic characteristics of this disease, identify the clinical characteristics associated with early death or subsequent leukemia, and assess the incidence of subsequent leukemia.
  • Blast cells associated with TL in DS infants exhibited FAB M(7) morphology and phenotype.
  • Most infants (74%) had trisomy 21 (or mosaicism) as the only cytogenetic abnormality in the blast cells.
  • Early death occurred in 17% of infants and was significantly correlated with higher white blood cell count at diagnosis (P < .001), increased bilirubin and liver enzymes (P < .005), and a failure to normalize the blood count (P = .001).
  • Recurrence of leukemia occurred in 19% of infants at a mean of 20 months.
  • Development of leukemia was significantly correlated with karyotypic abnormalities in addition to trisomy 21 (P = .037).
  • Ongoing collaborative clinical studies are needed to determine the optimal role of chemotherapy for infants at risk for increased mortality or disease recurrence and to further the knowledge of the unique biologic features of this TL.
  • [MeSH-major] Chromosomes, Human, Pair 21. Down Syndrome. Leukemia, Megakaryoblastic, Acute. Mosaicism. Trisomy

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  • [CommentIn] Blood. 2006 Dec 1;108(12):3952-3; author reply 3953 [17114573.001]
  • (PMID = 16469874.001).
  • [ISSN] 0006-4971
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] eng
  • [Publication-type] Clinical Trial; Journal Article; Multicenter Study
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Enzymes; RFM9X3LJ49 / Bilirubin
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97. Salek-Ardakani S, Smooha G, de Boer J, Sebire NJ, Morrow M, Rainis L, Lee S, Williams O, Izraeli S, Brady HJ: ERG is a megakaryocytic oncogene. Cancer Res; 2009 Jun 1;69(11):4665-73
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] ERG is a megakaryocytic oncogene.
  • Truncated forms of ERG are associated with multiple cancers such as Ewing's sarcoma, prostate cancer, and leukemia as part of oncogenic fusion translocations.
  • Increased expression of ERG is highly indicative of poor prognosis in acute myeloid leukemia and ERG is expressed in acute megakaryoblastic leukemia (AMKL); however, it is unclear if expression of ERG per se has a leukemogenic activity.
  • We show that ectopic expression of ERG in fetal hematopoietic progenitors promotes megakaryopoiesis and that ERG alone acts as a potent oncogene in vivo leading to rapid onset of leukemia in mice.
  • We observe that the endogenous ERG is required for the proliferation and maintenance of AMKL cell lines.
  • ERG also strongly cooperates with the GATA1s mutated protein, found in Down syndrome AMKL, to immortalize megakaryocyte progenitors, suggesting that the additional copy of ERG in trisomy 21 may have a role in Down syndrome AMKL.
  • These data suggest that ERG is a hematopoietic oncogene that may play a direct role in myeloid leukemia pathogenesis.
  • [MeSH-major] Leukemia, Megakaryoblastic, Acute / genetics. Megakaryocytes / physiology. Oncogenes / physiology. Thrombopoiesis / genetics. Trans-Activators / physiology

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  • (PMID = 19487285.001).
  • [ISSN] 1538-7445
  • [Journal-full-title] Cancer research
  • [ISO-abbreviation] Cancer Res.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / 1R01CA120772-01A2
  • [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 / ERG protein, human; 0 / Interleukin-3; 0 / Trans-Activators
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98. Gilles L, Bluteau D, Boukour S, Chang Y, Zhang Y, Robert T, Dessen P, Debili N, Bernard OA, Vainchenker W, Raslova H: MAL/SRF complex is involved in platelet formation and megakaryocyte migration by regulating MYL9 (MLC2) and MMP9. Blood; 2009 Nov 5;114(19):4221-32
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Megakaryoblastic leukemia 1 (MAL) is a transcriptional coactivator of serum response factor (SRF).
  • In acute megakaryoblastic leukemia, the MAL gene is translocated and fused with the gene encoding one twenty-two (OTT).

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  • [CommentIn] Blood. 2009 Nov 5;114(19):3977-8 [19892723.001]
  • (PMID = 19724058.001).
  • [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 / DNA-Binding Proteins; 0 / MKL1 protein, human; 0 / Multiprotein Complexes; 0 / Myosin Light Chains; 0 / Oncogene Proteins, Fusion; 0 / RNA, Small Interfering; 0 / SRF protein, human; 0 / Serum Response Factor; 0 / Trans-Activators; 0 / myosin light chain 2; EC 3.4.24.35 / Matrix Metalloproteinase 9; EC 3.6.1.- / Cardiac Myosins; EC 3.6.5.2 / rho GTP-Binding Proteins
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99. Toki T, Kanezaki R, Adachi S, Fujino H, Xu G, Sato T, Suzuki K, Tauchi H, Endo M, Ito E: The key role of stem cell factor/KIT signaling in the proliferation of blast cells from Down syndrome-related leukemia. Leukemia; 2009 Jan;23(1):95-103
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The key role of stem cell factor/KIT signaling in the proliferation of blast cells from Down syndrome-related leukemia.
  • Transient leukemia (TL) has been observed in approximately 10% of newborn infants with Down syndrome (DS).
  • In this study, we demonstrate abundant KIT expression in all 13 patients with GATA1 mutations, although no significant difference in expression levels was observed between TL and acute myeloid leukemia.
  • To investigate the signal cascade, we established the first SCF-dependent, DS-related acute megakaryoblastic leukemia cell line, KPAM1.
  • These results suggest the essential role of SCF/KIT signaling in the proliferation of DS-related leukemia and the possibility of therapeutic benefits of imatinib for TL patients.
  • [MeSH-major] Cell Proliferation. Down Syndrome / complications. Leukemia / pathology. Signal Transduction / physiology. Stem Cell Factor / physiology

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  • (PMID = 18830255.001).
  • [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 / Benzamides; 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human; 0 / Piperazines; 0 / Pyrimidines; 0 / Stem Cell Factor; 8A1O1M485B / Imatinib Mesylate
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100. Amorim MR, Figueiredo AB, Splendore A, Magalhães IQ, Pombo-de-Oliveira MS, El-Jaick KB, D'andrea ML, Aquino J, Alencar DM, Brandalise SR, Burlemaqui L, Cardoso TC, Carvalho EG, Coser VM, Costa I, Dorea D, Drumond M, Lopes VG, Mendonça N, Lee ML, Lopes LF, Mendonça CM, Nogueira F, Pimenta F, Pinheiro VP, Da Silva DB, Sobral E, Vargas FR, Werneck F: Detection of mutations in GATA1 gene using automated denaturing high-performance liquid chromatography and direct sequencing in children with Down syndrome. Leuk Lymphoma; 2009 May;50(5):834-40
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.
  • Twenty mutations were detected in exon 2 and one mutation in exon 3 (c.231_232 dupGT) sequences of acute megakaryoblastic leukemia and transient leukemia samples.
  • [MeSH-minor] Brazil / epidemiology. Child, Preschool. Female. Hematologic Diseases. Humans. Infant. Infant, Newborn. Leukemia / genetics. Male. Mutation. Sequence Analysis, DNA

  • Genetic Alliance. consumer health - Down Syndrome.
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  • (PMID = 19452320.001).
  • [ISSN] 1029-2403
  • [Journal-full-title] Leukemia & lymphoma
  • [ISO-abbreviation] Leuk. Lymphoma
  • [Language] eng
  • [Publication-type] Evaluation Studies; Letter; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / GATA1 Transcription Factor; 0 / GATA1 protein, human
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