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LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME, SOMATIC

MedGen UID:
395980
•Concept ID:
C1860789
•
Neoplastic Process
Synonym: Leukemia, megakaryoblastic, of Down syndrome

Recent clinical studies

Etiology

Synergistic roles of DYRK1A and GATA1 in trisomy 21 megakaryopoiesis.
Sit YT, Takasaki K, An HH, Xiao Y, Hurtz C, Gearhart PA, Zhang Z, Gadue P, French DL, Chou ST
JCI Insight 2023 Oct 31;8(23) doi: 10.1172/jci.insight.172851. PMID: 37906251Free PMC Article
Pathologic, cytogenetic, and molecular features of acute myeloid leukemia with megakaryocytic differentiation: A report from the Children's Oncology Group.
Chisholm KM, Smith J, Heerema-McKenney AE, Choi JK, Ries RE, Hirsch BA, Raimondi SC, Wang YC, Dang A, Alonzo TA, Sung L, Aplenc R, Gamis AS, Meshinchi S, Kahwash SB
Pediatr Blood Cancer 2023 May;70(5):e30251. Epub 2023 Feb 15 doi: 10.1002/pbc.30251. PMID: 36789545Free PMC Article
Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia-related malignancies.
Lalonde E, Rentas S, Wertheim G, Cao K, Surrey LF, Lin F, Zhao X, Obstfeld A, Aplenc R, Luo M, Li MM
Cold Spring Harb Mol Case Stud 2021 Apr;7(2) Epub 2021 Apr 8 doi: 10.1101/mcs.a005975. PMID: 33832921Free PMC Article
Haematopoietic development and leukaemia in Down syndrome.
Roberts I, Izraeli S
Br J Haematol 2014 Dec;167(5):587-99. Epub 2014 Aug 22 doi: 10.1111/bjh.13096. PMID: 25155832
Acute megakaryoblastic leukemia in Down syndrome.
Hitzler JK
Pediatr Blood Cancer 2007 Dec;49(7 Suppl):1066-9. doi: 10.1002/pbc.21353. PMID: 17943965

Diagnosis

The hematopoietic microenvironment of the fetal liver and transient abnormal myelopoiesis associated with Down syndrome: A review.
Miyauchi J
Crit Rev Oncol Hematol 2024 Jul;199:104382. Epub 2024 May 7 doi: 10.1016/j.critrevonc.2024.104382. PMID: 38723838
Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia-related malignancies.
Lalonde E, Rentas S, Wertheim G, Cao K, Surrey LF, Lin F, Zhao X, Obstfeld A, Aplenc R, Luo M, Li MM
Cold Spring Harb Mol Case Stud 2021 Apr;7(2) Epub 2021 Apr 8 doi: 10.1101/mcs.a005975. PMID: 33832921Free PMC Article
The biology of pediatric acute megakaryoblastic leukemia.
Gruber TA, Downing JR
Blood 2015 Aug 20;126(8):943-9. Epub 2015 Jul 17 doi: 10.1182/blood-2015-05-567859. PMID: 26186939Free PMC Article
Down syndrome and malignancies: a unique clinical relationship: a paper from the 2008 william beaumont hospital symposium on molecular pathology.
Xavier AC, Ge Y, Taub JW
J Mol Diagn 2009 Sep;11(5):371-80. doi: 10.2353/jmoldx.2009.080132. PMID: 19710397Free PMC Article
Down syndrome, drug metabolism and chromosome 21.
Taub JW, Ge Y
Pediatr Blood Cancer 2005 Jan;44(1):33-9. doi: 10.1002/pbc.20092. PMID: 15390307

Therapy

Are GATA1 mutations occurring at random in Down syndrome transient leukemia?
Satgé D
Med Hypotheses 2014 Aug;83(2):154-9. Epub 2014 May 20 doi: 10.1016/j.mehy.2014.05.005. PMID: 24880866
Overexpression of GATA1 confers resistance to chemotherapy in acute megakaryocytic Leukemia.
Caldwell JT, Edwards H, Dombkowski AA, Buck SA, Matherly LH, Ge Y, Taub JW
PLoS One 2013;8(7):e68601. Epub 2013 Jul 10 doi: 10.1371/journal.pone.0068601. PMID: 23874683Free PMC Article
A unique role of GATA1s in Down syndrome acute megakaryocytic leukemia biology and therapy.
Xavier AC, Edwards H, Dombkowski AA, Balci TB, Berman JN, Dellaire G, Xie C, Buck SA, Matherly LH, Ge Y, Taub JW
PLoS One 2011;6(11):e27486. Epub 2011 Nov 16 doi: 10.1371/journal.pone.0027486. PMID: 22110660Free PMC Article
Carcinogenesis in Down syndrome: what can be learned from trisomy 21?
Satgé D, Bénard J
Semin Cancer Biol 2008 Oct;18(5):365-71. Epub 2008 Apr 1 doi: 10.1016/j.semcancer.2008.03.020. PMID: 18455928
Down syndrome, drug metabolism and chromosome 21.
Taub JW, Ge Y
Pediatr Blood Cancer 2005 Jan;44(1):33-9. doi: 10.1002/pbc.20092. PMID: 15390307

Prognosis

A neonate with a unique non-Down syndrome transient proliferative megakaryoblastic disease.
Bertrums EJ, Buijs A, van Grotel M, Dors N, de Rooij JD, de Haas V, Hopman S, Jongmans MC, Zwaan CM, van den Heuvel-Eibrink MM
Pediatr Blood Cancer 2017 Mar;64(3) Epub 2016 Sep 26 doi: 10.1002/pbc.26230. PMID: 27667142
The biology of pediatric acute megakaryoblastic leukemia.
Gruber TA, Downing JR
Blood 2015 Aug 20;126(8):943-9. Epub 2015 Jul 17 doi: 10.1182/blood-2015-05-567859. PMID: 26186939Free PMC Article
Clinical and molecular epidemiology of neonatal leukemia in Brazil.
Moura SV, Andrade F, Magalhães IQ, Costa I, Silva DB, D'Andrea ML, Pinheiro VP, Lee ML, Werneck F, Emerenciano M, Pombo-de-Oliveira MS
Leuk Lymphoma 2015 Apr;56(4):903-9. Epub 2015 Jan 30 doi: 10.3109/10428194.2014.938327. PMID: 24991719
Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome.
Pine SR, Guo Q, Yin C, Jayabose S, Druschel CM, Sandoval C
Blood 2007 Sep 15;110(6):2128-31. Epub 2007 Jun 18 doi: 10.1182/blood-2007-01-069542. PMID: 17576817
Down syndrome, drug metabolism and chromosome 21.
Taub JW, Ge Y
Pediatr Blood Cancer 2005 Jan;44(1):33-9. doi: 10.1002/pbc.20092. PMID: 15390307

Clinical prediction guides

Pathologic, cytogenetic, and molecular features of acute myeloid leukemia with megakaryocytic differentiation: A report from the Children's Oncology Group.
Chisholm KM, Smith J, Heerema-McKenney AE, Choi JK, Ries RE, Hirsch BA, Raimondi SC, Wang YC, Dang A, Alonzo TA, Sung L, Aplenc R, Gamis AS, Meshinchi S, Kahwash SB
Pediatr Blood Cancer 2023 May;70(5):e30251. Epub 2023 Feb 15 doi: 10.1002/pbc.30251. PMID: 36789545Free PMC Article
Haematopoietic development and leukaemia in Down syndrome.
Roberts I, Izraeli S
Br J Haematol 2014 Dec;167(5):587-99. Epub 2014 Aug 22 doi: 10.1111/bjh.13096. PMID: 25155832
Are GATA1 mutations occurring at random in Down syndrome transient leukemia?
Satgé D
Med Hypotheses 2014 Aug;83(2):154-9. Epub 2014 May 20 doi: 10.1016/j.mehy.2014.05.005. PMID: 24880866
Identification of TRIB1 R107L gain-of-function mutation in human acute megakaryocytic leukemia.
Yokoyama T, Toki T, Aoki Y, Kanezaki R, Park MJ, Kanno Y, Takahara T, Yamazaki Y, Ito E, Hayashi Y, Nakamura T
Blood 2012 Mar 15;119(11):2608-11. Epub 2012 Jan 31 doi: 10.1182/blood-2010-12-324806. PMID: 22294728
Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome.
Pine SR, Guo Q, Yin C, Jayabose S, Druschel CM, Sandoval C
Blood 2007 Sep 15;110(6):2128-31. Epub 2007 Jun 18 doi: 10.1182/blood-2007-01-069542. PMID: 17576817

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