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1. 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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  • [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.
  • Treatment was well tolerated and complete remission was achieved.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Dog Diseases / drug therapy. Leukemia, Megakaryoblastic, Acute / veterinary
  • [MeSH-minor] Animals. Bone Marrow Cells / drug effects. Bone Marrow Cells / pathology. Cytarabine / administration & dosage. Daunorubicin / administration & dosage. Dogs. Etoposide / administration & dosage. Male. Prednisolone / administration & dosage. Remission Induction. Secondary Prevention. Vincristine / administration & dosage

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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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2. 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%.
  • [MeSH-major] Hematopoietic Stem Cell Transplantation. Leukemia, Megakaryoblastic, Acute / pathology. Leukemia, Megakaryoblastic, Acute / surgery

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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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3. Oki Y, Kantarjian HM, Zhou X, Cortes J, Faderl S, Verstovsek S, O'Brien S, Koller C, Beran M, Bekele BN, Pierce S, Thomas D, Ravandi F, Wierda WG, Giles F, Ferrajoli A, Jabbour E, Keating MJ, Bueso-Ramos CE, Estey E, Garcia-Manero G: Adult acute megakaryocytic leukemia: an analysis of 37 patients treated at M.D. Anderson Cancer Center. Blood; 2006 Feb 1;107(3):880-4
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  • [Title] Adult acute megakaryocytic leukemia: an analysis of 37 patients treated at M.D. Anderson Cancer Center.
  • To characterize acute megakaryocytic leukemia (FAB M7 AML), we identified 37 patients with M7 AML treated at M.D.
  • The median age of the M7 AML group was 56 years (range, 21-78 years); 22 patients (59%) had an antecedent hematologic disorder or myelodysplastic syndrome or both, and 7 patients (19%) had previously received chemotherapy for other malignancies.
  • Complete remission rates were 43% with M7 AML and 57% with non-M7 AML (P = .089).
  • [MeSH-major] Chromosome Aberrations. Chromosomes, Human. Leukemia, Megakaryoblastic, Acute / mortality. Leukemia, Megakaryoblastic, Acute / pathology

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  • (PMID = 16123215.001).
  • [ISSN] 0006-4971
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] United States
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4. 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).
  • The patient responded well to chemotherapy, achieved complete remission, and at writing had been in complete remission for 60 months.
  • [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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5. 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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  • [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.
  • The patient responded to induction therapy, achieving complete remission after 9 days of therapy.
  • [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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6. 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).
  • [MeSH-major] Down Syndrome / genetics. GATA1 Transcription Factor / genetics. Leukemia / diagnosis. Leukemia / genetics. Leukemia, Megakaryoblastic, Acute / diagnosis. Leukemia, Megakaryoblastic, Acute / genetics
  • [MeSH-minor] Child, Preschool. Chromosomes, Human, Pair 21 / genetics. Cloning, Molecular. Exons. Female. Humans. Infant. Infant, Newborn. Male. Mutation. Neoplasm, Residual. Polymerase Chain Reaction / methods. Remission Induction

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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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7. 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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  • [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.
  • Most children were able to spontaneously clear peripheral blasts (89%), normalize blood counts (74%), and maintain a complete remission (64%).
  • 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).
  • [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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8. Al-Shehri A, Al-Seraihy A, Owaidah TM, Belgaumi AF: Megakaryocytic blast crisis at presentation in a pediatric patient with chronic myeloid leukemia. Hematol Oncol Stem Cell Ther; 2010;3(1):42-6
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  • [Title] Megakaryocytic blast crisis at presentation in a pediatric patient with chronic myeloid leukemia.
  • Patients with chronic myeloid leukemia (CML) infrequently present in blast crisis (BC).
  • While most BC are of myeloid origin, megakaryocytic BC is rare, especially at the time of CML diagnosis.
  • We describe the first pediatric patient presenting with megakaryocytic leukemia and having BCR-ABL1 translocation as the single chromosomal abnormality.
  • Clinical features were more suggestive of CML in megakaryocytic blast crisis than Philadelphia chromosome positive de novo AML.
  • [MeSH-major] Blast Crisis / pathology. Leukemia, Megakaryoblastic, Acute / pathology. Leukemia, Myelogenous, Chronic, BCR-ABL Positive / pathology. Megakaryocytes / pathology
  • [MeSH-minor] Antineoplastic Agents / therapeutic use. Benzamides. Child. Cord Blood Stem Cell Transplantation. Diagnosis, Differential. Female. Humans. Imatinib Mesylate. Piperazines / therapeutic use. Pyrimidines / therapeutic use. Remission Induction. Treatment Outcome

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  • (PMID = 20231813.001).
  • [ISSN] 1658-3876
  • [Journal-full-title] Hematology/oncology and stem cell therapy
  • [ISO-abbreviation] Hematol Oncol Stem Cell Ther
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Saudi Arabia
  • [Chemical-registry-number] 0 / Antineoplastic Agents; 0 / Benzamides; 0 / Piperazines; 0 / Pyrimidines; 8A1O1M485B / Imatinib Mesylate
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9. 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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  • [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.
  • After achieving complete remission, the tetrasomy 21 disappeared.
  • [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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10. Li-Thiao-Te V, Bourges-Petit E, Capiod JC, Horle B, Micheli J, Morin G, Maingourd Y, Pautard B: [Congenital transient leukemia: a case report]. Arch Pediatr; 2008 Jan;15(1):33-6
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  • [Title] [Congenital transient leukemia: a case report].
  • Neonates with Down's syndrome have an increased risk for congenital leukaemia, particularly acute megakaryoblastic leukaemia (FAB, M7) which most often resolves spontaneously and is called transient leukaemia.
  • OBSERVATION: We report a transient leukaemia with an isolated pericardial effusion in a phenotypically normal neonate.
  • Complete remission remains after 32 months.
  • [MeSH-major] Down Syndrome / complications. Leukemia, Megakaryoblastic, Acute / congenital
  • [MeSH-minor] Antigens, CD / analysis. Humans. Infant. Male. Remission, Spontaneous

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  • (PMID = 18162385.001).
  • [ISSN] 0929-693X
  • [Journal-full-title] Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
  • [ISO-abbreviation] Arch Pediatr
  • [Language] fre
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Antigens, CD
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11. 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.
  • 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
  • [MeSH-minor] Age of Onset. Female. Humans. Infant, Newborn. Infant, Newborn, Diseases. Male. Prognosis. Remission, Spontaneous. Risk Factors

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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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12. Wang D, Ke XY, Wang J, Xu F, Hu YF: [Correlation between MDR1 genetic polymorphism and prognosis in acute myeloid leukemia]. Zhonghua Yi Xue Za Zhi; 2007 May 29;87(20):1384-8
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  • [Title] [Correlation between MDR1 genetic polymorphism and prognosis in acute myeloid leukemia].
  • OBJECTIVE: To assess the correlation of the multidrug resistance-1 (MDR1) gene single nucleotide polymorphisms (SNP) C1236T, G2677T/A and C3435T with the outcome of induction chemotherapy in patients with de novo acute myeloid leukemia (AML).
  • Bone marrow smear was made at the end of the first induction chemotherapy to estimate whether complete remission (CR) has been achieved with the clinical characteristics.
  • CONCLUSION: With important prognostic significance, MDR1 genetic polymorphisms, such as G2677T/A can predict whether complete remission can be achieved after the first course of induction chemotherapy.
  • [MeSH-major] Leukemia, Myeloid / genetics. P-Glycoprotein / genetics. Polymorphism, Single Nucleotide
  • [MeSH-minor] Acute Disease. Adolescent. Adult. Aged. Aged, 80 and over. Base Sequence. DNA Mutational Analysis. Female. Gene Frequency. Genotype. Humans. Leukemia, Erythroblastic, Acute / drug therapy. Leukemia, Erythroblastic, Acute / genetics. Leukemia, Erythroblastic, Acute / pathology. Leukemia, Megakaryoblastic, Acute / drug therapy. Leukemia, Megakaryoblastic, Acute / genetics. Leukemia, Megakaryoblastic, Acute / pathology. Leukemia, Monocytic, Acute / drug therapy. Leukemia, Monocytic, Acute / genetics. Leukemia, Monocytic, Acute / pathology. Leukemia, Myeloid, Acute / drug therapy. Leukemia, Myeloid, Acute / genetics. Leukemia, Myeloid, Acute / pathology. Leukemia, Myelomonocytic, Acute / drug therapy. Leukemia, Myelomonocytic, Acute / genetics. Leukemia, Myelomonocytic, Acute / pathology. Leukemia, Promyelocytic, Acute / drug therapy. Leukemia, Promyelocytic, Acute / genetics. Leukemia, Promyelocytic, Acute / pathology. Male. Middle Aged. P-Glycoproteins. Prognosis. Remission Induction

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  • (PMID = 17785057.001).
  • [ISSN] 0376-2491
  • [Journal-full-title] Zhonghua yi xue za zhi
  • [ISO-abbreviation] Zhonghua Yi Xue Za Zhi
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] China
  • [Chemical-registry-number] 0 / ABCB1 protein, human; 0 / P-Glycoprotein; 0 / P-Glycoproteins
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13. Lee JH, Choi SJ, Lee JH, Park JH, Kim H, Joo YD, Lee WS, Zang DY, Kim HJ, Lee KH, Cooperative Study Group A for Hematology: Standard induction chemotherapy followed by attenuated consolidation in elderly patients with acute myeloid leukemia. Ann Hematol; 2006 Jun;85(6):357-65
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  • [Title] Standard induction chemotherapy followed by attenuated consolidation in elderly patients with acute myeloid leukemia.
  • The benefits of intensive post-remission chemotherapy have not been verified in elderly patients with acute myeloid leukemia (AML).
  • To reduce fatal complications caused by intensive post-remission therapy, we performed a prospective phase II multicenter trial of standard induction chemotherapy ('7+3' of cytarabine plus daunorubicin), followed by two cycles of attenuated consolidation therapy ('5+1' of cytarabine plus daunorubicin) for elderly patients with AML, excluding those with M3.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Leukemia, Myeloid / drug therapy
  • [MeSH-minor] Acute Disease. Aged. Disease-Free Survival. Female. Flow Cytometry. Humans. Immunophenotyping / methods. Leukemia, Erythroblastic, Acute / drug therapy. Leukemia, Erythroblastic, Acute / immunology. Leukemia, Erythroblastic, Acute / pathology. Leukemia, Megakaryoblastic, Acute / drug therapy. Leukemia, Megakaryoblastic, Acute / immunology. Leukemia, Megakaryoblastic, Acute / pathology. Leukemia, Monocytic, Acute / drug therapy. Leukemia, Monocytic, Acute / immunology. Leukemia, Monocytic, Acute / pathology. Leukemia, Myeloid, Acute / drug therapy. Leukemia, Myeloid, Acute / immunology. Leukemia, Myeloid, Acute / pathology. Leukemia, Myelomonocytic, Acute / drug therapy. Leukemia, Myelomonocytic, Acute / immunology. Leukemia, Myelomonocytic, Acute / pathology. Male. Middle Aged. Prognosis. Prospective Studies. Treatment Outcome

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  • (PMID = 16575580.001).
  • [ISSN] 0939-5555
  • [Journal-full-title] Annals of hematology
  • [ISO-abbreviation] Ann. Hematol.
  • [Language] eng
  • [Publication-type] Clinical Trial, Phase II; Journal Article; Multicenter Study
  • [Publication-country] Germany
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14. 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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15. Barnard DR, Alonzo TA, Gerbing RB, Lange B, Woods WG, Children's Oncology Group: Comparison of childhood myelodysplastic syndrome, AML FAB M6 or M7, CCG 2891: report from the Children's Oncology Group. Pediatr Blood Cancer; 2007 Jul;49(1):17-22
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  • BACKGROUND: Myelodysplastic syndromes (MDS), acute erythroleukemia (FAB M6), and acute megakaryocytic leukemia (FAB M7) have overlapping features.
  • PROCEDURE: Children without Down syndrome or acute promyelocytic leukemia who were newly diagnosed with primary myelodysplastic syndrome or acute myeloid leukemia (AML) M6 or M7 were compared to children with de novo AML M0-M5.
  • [MeSH-major] Leukemia, Erythroblastic, Acute / diagnosis. Leukemia, Megakaryoblastic, Acute / diagnosis. Myelodysplastic Syndromes / diagnosis
  • [MeSH-minor] Acute Disease. Child. Child, Preschool. Diagnosis, Differential. Disease-Free Survival. Female. Humans. Male. Prognosis. Remission Induction. Survival Rate. Treatment Outcome


16. 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.
  • 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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17. Kudo K, Kojima S, Tabuchi K, Yabe H, Tawa A, Imaizumi M, Hanada R, Hamamoto K, Kobayashi R, Morimoto A, Nakayama H, Tsuchida M, Horibe K, Kigasawa H, Tsukimoto I, Japanese Childhood AML Cooperative Study Group: Prospective study of a pirarubicin, intermediate-dose cytarabine, and etoposide regimen in children with Down syndrome and acute myeloid leukemia: the Japanese Childhood AML Cooperative Study Group. J Clin Oncol; 2007 Dec 1;25(34):5442-7
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  • [Title] Prospective study of a pirarubicin, intermediate-dose cytarabine, and etoposide regimen in children with Down syndrome and acute myeloid leukemia: the Japanese Childhood AML Cooperative Study Group.
  • PURPOSE: To evaluate a less intensive chemotherapeutic regimen specifically designed for patients with Down syndrome (DS) and acute myeloid leukemia (AML), and to determine the prognostic factors for event-free survival.
  • PATIENTS AND METHODS: Seventy-two patients with AML-DS were treated with remission induction chemotherapy consisting of pirarubicin (25 mg/m2/d for 2 days), cytarabine (100 mg/m2/d for 7 days), and etoposide (150 mg/m2/d for 3 days).
  • Prophylaxis for CNS leukemia was not included.
  • RESULTS: All but two patients were younger than 4 years, and 67 of the 72 patients (93%) were diagnosed as acute megakaryoblastic leukemia (AMKL).
  • Seventy of the 72 patients (97.2%) achieved a complete remission (CR), and the estimated 4-year event-free survival (EFS) rate was 83% +/- 9%.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / administration & dosage. Down Syndrome / complications. Leukemia, Megakaryoblastic, Acute / drug therapy


18. Chang HH, Lu MY, Jou ST, Lin KH, Tien HF, Wu ET, Lin DT: Neoplastic disorders of hematopoiesis in children with Down's syndrome--a single institution experience in Taiwan. J Formos Med Assoc; 2005 May;104(5):333-40
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  • METHODS: All DS patients aged < 18 years of age with a diagnosis of leukemia or myelodysplastic syndrome (MDS) from 1990 to 2002 were included in this retrospective study.
  • The clinical and laboratory characteristics of patients, including age at diagnosis, gender, initial hemogram, cytogenetic findings, immunophenotype, treatment regimen and outcomes were analyzed.
  • Among them, 9 patients (56%) had acute myeloid leukemia (AML), mainly of the megakaryoblastic subtype.
  • Of the 5 patients who underwent chemotherapy, 3 remained in remission with a survival time of 29, 59, and 109 months, and the remaining 2 died as a consequence of chemotherapy toxicity.
  • Among the 6 patients (38%) who developed transient myeloproliferative disorder, 2 were lost to follow-up, 2 died from DS-associated congenital heart abnormalities and 2 survived without any AML changes.
  • The remaining 1 patient (6%) who developed ALL was still in his first remission although this patient suffered profound chemotherapy complications during treatment.
  • CONCLUSIONS: This study found that AML is the most common hematologic neoplasm in Taiwanese children with DS, especially megakaryoblastic leukemia.
  • Long-term remission of AML in DS patients can be achieved with appropriate treatment.

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  • (PMID = 15959600.001).
  • [ISSN] 0929-6646
  • [Journal-full-title] Journal of the Formosan Medical Association = Taiwan yi zhi
  • [ISO-abbreviation] J. Formos. Med. Assoc.
  • [Language] ENG
  • [Publication-type] Journal Article
  • [Publication-country] Singapore
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19. Webb DK: Optimizing therapy for myeloid disorders of Down syndrome. Br J Haematol; 2005 Oct;131(1):3-7
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  • Children with Down syndrome (DS) are at increased risk of leukaemia.
  • Myeloid disorders include transient abnormal myelopoiesis (TAM), myelodysplasia (MDS) and acute myeloid leukaemia (AML).
  • Mutations in the GATA-1 gene, which encodes for a transcription factor central to the normal development of the erythroid and megakaryocytic lineages, are found in cases of TAM, MDS and AML in DS children.
  • DS children with MDS/AML mostly present between the ages of 1 and 4 years, and have a large predominance of megakaryoblastic disease (French-American-British type M7).
  • The MDS and AML are part of a single disease entity (myeloid leukaemia of Down syndrome) that is extremely sensitive to chemotherapy.
  • Resistant disease and relapse are rare, but treatment-related toxicity is high, and deaths in remission have exceeded those due to disease in most series.
  • [MeSH-major] Down Syndrome / complications. Down Syndrome / therapy. Leukemia, Myeloid / complications. Leukemia, Myeloid / therapy
  • [MeSH-minor] Acute Disease. Antineoplastic Combined Chemotherapy Protocols / administration & dosage. Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Child, Preschool. Drug Administration Schedule. Humans. Infant. Megakaryocytes / immunology. Neural Tube Defects / complications. Neural Tube Defects / therapy

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  • (PMID = 16173956.001).
  • [ISSN] 0007-1048
  • [Journal-full-title] British journal of haematology
  • [ISO-abbreviation] Br. J. Haematol.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Number-of-references] 42
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20. 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
  • [MeSH-minor] Benzamides. Dasatinib. Drug Resistance, Neoplasm. Humans. Imatinib Mesylate. Karyotyping. Male. Middle Aged. Remission Induction

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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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21. 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
  • [MeSH-minor] Bone Marrow Cells / cytology. Bone Marrow Cells / metabolism. Cytogenetic Analysis. Female. Humans. Immunophenotyping. Infant. Remission, Spontaneous


22. 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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  • [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
  • [MeSH-minor] Adolescent. Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Child. Child, Preschool. Clinical Trials as Topic. Cytarabine / therapeutic use. Etoposide / therapeutic use. Female. Humans. Idarubicin / therapeutic use. Infant. Male. Remission Induction / methods. Retrospective Studies. Survival Analysis. Treatment Outcome

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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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