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Acute megakaryocytic leukemia

MedGen UID:
44124
•Concept ID:
C0023462
•
Neoplastic Process
Synonym: Acute megakaryoblastic leukemia
SNOMED CT: Acute megakaryoblastic leukemia, FAB M7 (277602003); Acute megakaryoblastic leukemia, morphology (52220008); Thrombocytic leukemia (188754005); Megakaryocytic leukemia (188754005); Acute megakaryoblastic leukemia (277602003); M7 - Acute megakaryoblastic leukemia (277602003); Acute myelofibrosis (277602003); Acute megakaryoblastic leukemia (52220008); Megakaryocytic leukemia (52220008); Megakaryocytic myelosis (52220008); Malignant megakaryocytosis (52220008); Megakaryoblastic leukemia (52220008); FAB M7 (52220008)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
HPO: HP:0006733
Monarch Initiative: MONDO:0018872
Orphanet: ORPHA518

Definition

A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts. [from HPO]

Conditions with this feature

Down syndrome
MedGen UID:
4385
•Concept ID:
C0013080
•
Disease or Syndrome
Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21.
See: Condition Record
Down syndrome

Professional guidelines

PubMed

Megakaryoblastic leukemia: a study on novel role of clinically significant long non-coding RNA signatures in megakaryocyte development during treatment with phorbol ester.
Dahariya S, Raghuwanshi S, Sangeeth A, Malleswarapu M, Kandi R, Gutti RK
Cancer Immunol Immunother 2021 Dec;70(12):3477-3488. Epub 2021 Apr 23 doi: 10.1007/s00262-021-02937-0. PMID: 33890137Free PMC Article
Criteria for diagnosis of acute megakaryocytic leukemia.
Strauchen JA
Blood 2001 Mar 15;97(6):1898. doi: 10.1182/blood.v97.6.1898. PMID: 11263442
Myelofibrosis: a review of clinical and pathologic features and treatment.
Smith RE, Chelmowski MK, Szabo EJ
Crit Rev Oncol Hematol 1990;10(4):305-14. doi: 10.1016/1040-8428(90)90007-f. PMID: 2278639

Recent clinical studies

Etiology

Clinical Analysis of Pediatric Acute Megakaryocytic Leukemia With CBFA2T3-GLIS2 Fusion Gene.
Du Y, Yang L, Qi S, Chen Z, Sun M, Wu M, Wu B, Tao F, Xiong H
J Pediatr Hematol Oncol 2024 Mar 1;46(2):96-103. Epub 2024 Feb 1 doi: 10.1097/MPH.0000000000002822. PMID: 38315896Free PMC Article
Unique clinical and biological features of leukemia in Down syndrome children.
Xavier AC, Ge Y, Taub J
Expert Rev Hematol 2010 Apr;3(2):175-86. doi: 10.1586/ehm.10.14. PMID: 21083461
Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome.
Malinge S, Izraeli S, Crispino JD
Blood 2009 Mar 19;113(12):2619-28. Epub 2009 Jan 12 doi: 10.1182/blood-2008-11-163501. PMID: 19139078Free PMC Article
Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome.
Dixon N, Kishnani PS, Zimmerman S
Am J Med Genet C Semin Med Genet 2006 Aug 15;142C(3):149-57. doi: 10.1002/ajmg.c.30096. PMID: 17048354
Acute megakaryocytic leukemia with the t(1;22)(p13;q13).
Lion T, Haas OA
Leuk Lymphoma 1993 Sep;11(1-2):15-20. doi: 10.3109/10428199309054726. PMID: 8220150

Diagnosis

Clinical Analysis of Pediatric Acute Megakaryocytic Leukemia With CBFA2T3-GLIS2 Fusion Gene.
Du Y, Yang L, Qi S, Chen Z, Sun M, Wu M, Wu B, Tao F, Xiong H
J Pediatr Hematol Oncol 2024 Mar 1;46(2):96-103. Epub 2024 Feb 1 doi: 10.1097/MPH.0000000000002822. PMID: 38315896Free PMC Article
Acute megakaryocytic leukemia: What have we learned.
Hahn AW, Li B, Prouet P, Giri S, Pathak R, Martin MG
Blood Rev 2016 Jan;30(1):49-53. Epub 2015 Jul 18 doi: 10.1016/j.blre.2015.07.005. PMID: 26228843
Unique clinical and biological features of leukemia in Down syndrome children.
Xavier AC, Ge Y, Taub J
Expert Rev Hematol 2010 Apr;3(2):175-86. doi: 10.1586/ehm.10.14. PMID: 21083461
Acute megakaryocytic leukemia with the t(1;22)(p13;q13).
Lion T, Haas OA
Leuk Lymphoma 1993 Sep;11(1-2):15-20. doi: 10.3109/10428199309054726. PMID: 8220150
Acute megakaryocytic leukemia (M7) in children.
Windebank KP, Tefferi A, Smithson WA, Li CY, Solberg LA Jr, Priest JR, Elliott SC, de Alarcon PA, Weinblatt ME, Burgert EO Jr
Mayo Clin Proc 1989 Nov;64(11):1339-51. doi: 10.1016/s0025-6196(12)65376-2. PMID: 2531821

Therapy

Acute megakaryocytic leukemia: What have we learned.
Hahn AW, Li B, Prouet P, Giri S, Pathak R, Martin MG
Blood Rev 2016 Jan;30(1):49-53. Epub 2015 Jul 18 doi: 10.1016/j.blre.2015.07.005. PMID: 26228843
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
Hypercalcemia in pediatric acute megakaryocytic leukemia: case report and review of the literature.
Qayed M, Ahmed I, Valentini RP, Cushing B, Rajpurkar M
J Pediatr Hematol Oncol 2009 May;31(5):373-6. doi: 10.1097/MPH.0b013e31819a5d29. PMID: 19415024
Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome.
Malinge S, Izraeli S, Crispino JD
Blood 2009 Mar 19;113(12):2619-28. Epub 2009 Jan 12 doi: 10.1182/blood-2008-11-163501. PMID: 19139078Free PMC Article
Acute megakaryocytic leukemia (M7) in children.
Windebank KP, Tefferi A, Smithson WA, Li CY, Solberg LA Jr, Priest JR, Elliott SC, de Alarcon PA, Weinblatt ME, Burgert EO Jr
Mayo Clin Proc 1989 Nov;64(11):1339-51. doi: 10.1016/s0025-6196(12)65376-2. PMID: 2531821

Prognosis

Acute Megakaryocytic Leukemia.
McNulty M, Crispino JD
Cold Spring Harb Perspect Med 2020 Feb 3;10(2) doi: 10.1101/cshperspect.a034884. PMID: 31548219Free PMC Article
Cohesin Mutations in Myeloid Malignancies.
Fisher JB, McNulty M, Burke MJ, Crispino JD, Rao S
Trends Cancer 2017 Apr;3(4):282-293. doi: 10.1016/j.trecan.2017.02.006. PMID: 28626802Free PMC Article
Acute megakaryocytic leukemia: What have we learned.
Hahn AW, Li B, Prouet P, Giri S, Pathak R, Martin MG
Blood Rev 2016 Jan;30(1):49-53. Epub 2015 Jul 18 doi: 10.1016/j.blre.2015.07.005. PMID: 26228843
Hypercalcemia in pediatric acute megakaryocytic leukemia: case report and review of the literature.
Qayed M, Ahmed I, Valentini RP, Cushing B, Rajpurkar M
J Pediatr Hematol Oncol 2009 May;31(5):373-6. doi: 10.1097/MPH.0b013e31819a5d29. PMID: 19415024
Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome.
Malinge S, Izraeli S, Crispino JD
Blood 2009 Mar 19;113(12):2619-28. Epub 2009 Jan 12 doi: 10.1182/blood-2008-11-163501. PMID: 19139078Free PMC Article

Clinical prediction guides

BCL-XL expression is essential for human erythropoiesis and engraftment of hematopoietic stem cells.
Afreen S, Bohler S, Müller A, Demmerath EM, Weiss JM, Jutzi JS, Schachtrup K, Kunze M, Erlacher M
Cell Death Dis 2020 Jan 6;11(1):8. doi: 10.1038/s41419-019-2203-z. PMID: 31907357Free PMC Article
CCND1-BCL2 Gene Network: A direct target of Amifostine in human acute megakaryocytic leukemia cells.
Zhang F, Yang B, Zhang K, Hou ML, Lu XC, Li YX
Chem Biol Drug Des 2017 May;89(5):681-693. Epub 2017 Jan 2 doi: 10.1111/cbdd.12889. PMID: 27762064
Exchange transfusion in patients with Down syndrome and severe transient leukemia.
Hayasaka I, Cho K, Morioka K, Kaneshi Y, Akimoto T, Furuse Y, Moriichi A, Iguchi A, Cho Y, Minakami H, Ariga T
Pediatr Int 2015 Aug;57(4):620-5. Epub 2015 Apr 28 doi: 10.1111/ped.12586. PMID: 25615715
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
Phenotypic and genotypic heterogeneity in infant acute leukemia. II. Acute nonlymphoblastic leukemia.
Köller U, Haas OA, Ludwig WD, Bartram CR, Harbott J, Panzer-Grümayer R, Hansen-Hagge T, Ritter J, Creutzig U, Knapp W
Leukemia 1989 Oct;3(10):708-14. PMID: 2779287

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