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Acute megakaryoblastic leukemia

MedGen UID:
44124
•Concept ID:
C0023462
•
Neoplastic Process
Synonym: Acute megakaryocytic 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 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

A retrospective analysis of gene fusions and treatment outcomes in pediatric acute megakaryoblastic leukemia without Down syndrome.
Suzuki K, Hama A, Okuno Y, Xu Y, Narita A, Yoshida N, Muramatsu H, Nishio N, Kato K, Kojima S, Yoo KH, Takahashi Y
Haematologica 2024 Jun 1;109(6):1936-1940. doi: 10.3324/haematol.2023.283760. PMID: 38299674Free PMC Article
Molecular features, prognosis, and novel treatment options for pediatric acute megakaryoblastic leukemia.
De Marchi F, Araki M, Komatsu N
Expert Rev Hematol 2019 May;12(5):285-293. Epub 2019 Apr 27 doi: 10.1080/17474086.2019.1609351. PMID: 30991862
Acute megakaryoblastic leukemia in children and adolescents, excluding Down's syndrome: improved outcome with intensified induction treatment.
Reinhardt D, Diekamp S, Langebrake C, Ritter J, Stary J, Dworzak M, Schrauder A, Zimmermann M, Fleischhack G, Ludwig WD, Harbott J, Creutzig U
Leukemia 2005 Aug;19(8):1495-6. doi: 10.1038/sj.leu.2403815. PMID: 15920489

Recent clinical studies

Etiology

Landscape of driver mutations and their clinical effects on Down syndrome-related myeloid neoplasms.
Sato T, Yoshida K, Toki T, Kanezaki R, Terui K, Saiki R, Ojima M, Ochi Y, Mizuno S, Yoshihara M, Uechi T, Kenmochi N, Tanaka S, Matsubayashi J, Kisai K, Kudo K, Yuzawa K, Takahashi Y, Tanaka T, Yamamoto Y, Kobayashi A, Kamio T, Sasaki S, Shiraishi Y, Chiba K, Tanaka H, Muramatsu H, Hama A, Hasegawa D, Sato A, Koh K, Karakawa S, Kobayashi M, Hara J, Taneyama Y, Imai C, Hasegawa D, Fujita N, Yoshitomi M, Iwamoto S, Yamato G, Saida S, Kiyokawa N, Deguchi T, Ito M, Matsuo H, Adachi S, Hayashi Y, Taga T, Saito AM, Horibe K, Watanabe K, Tomizawa D, Miyano S, Takahashi S, Ogawa S, Ito E
Blood 2024 Jun 20;143(25):2627-2643. doi: 10.1182/blood.2023022247. PMID: 38513239
Cytogenetics of Pediatric Acute Myeloid Leukemia: A Review of the Current Knowledge.
Quessada J, Cuccuini W, Saultier P, Loosveld M, Harrison CJ, Lafage-Pochitaloff M
Genes (Basel) 2021 Jun 17;12(6) doi: 10.3390/genes12060924. PMID: 34204358Free PMC Article
The changing scenario of non-Down syndrome acute megakaryoblastic leukemia in children.
Masetti R, Guidi V, Ronchini L, Bertuccio NS, Locatelli F, Pession A
Crit Rev Oncol Hematol 2019 Jun;138:132-138. Epub 2019 Apr 15 doi: 10.1016/j.critrevonc.2019.04.011. PMID: 31092368
Gene expression profiling in acute myeloid leukaemia (AML).
Bacher U, Kohlmann A, Haferlach C, Haferlach T
Best Pract Res Clin Haematol 2009 Jun;22(2):169-80. doi: 10.1016/j.beha.2009.04.003. PMID: 19698926
Acute megakaryoblastic leukemia.
Gassmann W, Löffler H
Leuk Lymphoma 1995;18 Suppl 1:69-73. doi: 10.3109/10428199509075307. PMID: 7496359

Diagnosis

Erythroid/megakaryocytic differentiation confers BCL-XL dependency and venetoclax resistance in acute myeloid leukemia.
Kuusanmäki H, Dufva O, Vähä-Koskela M, Leppä AM, Huuhtanen J, Vänttinen I, Nygren P, Klievink J, Bouhlal J, Pölönen P, Zhang Q, Adnan-Awad S, Mancebo-Pérez C, Saad J, Miettinen J, Javarappa KK, Aakko S, Ruokoranta T, Eldfors S, Heinäniemi M, Theilgaard-Mönch K, Wartiovaara-Kautto U, Keränen M, Porkka K, Konopleva M, Wennerberg K, Kontro M, Heckman CA, Mustjoki S
Blood 2023 Mar 30;141(13):1610-1625. doi: 10.1182/blood.2021011094. PMID: 36508699Free PMC Article
Therapy-related acute megakaryoblastic leukemia with severe myelofibrosis.
Yoshino H, Gemma Y, Miyazawa N, Bessho F, Yan K
Pediatr Int 2022 Jan;64(1):e14842. doi: 10.1111/ped.14842. PMID: 35103363
Infant Acute Leukemia.
Wertheim G
Clin Lab Med 2021 Sep;41(3):541-550. doi: 10.1016/j.cll.2021.04.002. PMID: 34304781
Cytogenetics of Pediatric Acute Myeloid Leukemia: A Review of the Current Knowledge.
Quessada J, Cuccuini W, Saultier P, Loosveld M, Harrison CJ, Lafage-Pochitaloff M
Genes (Basel) 2021 Jun 17;12(6) doi: 10.3390/genes12060924. PMID: 34204358Free 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

Therapy

Erythroid/megakaryocytic differentiation confers BCL-XL dependency and venetoclax resistance in acute myeloid leukemia.
Kuusanmäki H, Dufva O, Vähä-Koskela M, Leppä AM, Huuhtanen J, Vänttinen I, Nygren P, Klievink J, Bouhlal J, Pölönen P, Zhang Q, Adnan-Awad S, Mancebo-Pérez C, Saad J, Miettinen J, Javarappa KK, Aakko S, Ruokoranta T, Eldfors S, Heinäniemi M, Theilgaard-Mönch K, Wartiovaara-Kautto U, Keränen M, Porkka K, Konopleva M, Wennerberg K, Kontro M, Heckman CA, Mustjoki S
Blood 2023 Mar 30;141(13):1610-1625. doi: 10.1182/blood.2021011094. PMID: 36508699Free PMC Article
JAK: Not Just Another Kinase.
Agashe RP, Lippman SM, Kurzrock R
Mol Cancer Ther 2022 Dec 2;21(12):1757-1764. doi: 10.1158/1535-7163.MCT-22-0323. PMID: 36252553Free 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
MiR-125b and miR-99a encoded on chromosome 21 co-regulate vincristine resistance in childhood acute megakaryoblastic leukemia.
Kandi R, Gutti U, Saladi RG, Gutti RK
Hematol Oncol Stem Cell Ther 2015 Jun;8(2):95-7. Epub 2014 Dec 27 doi: 10.1016/j.hemonc.2014.11.008. PMID: 25571789
Uncommon subtypes of acute nonlymphocytic leukemia: clinical features and management of FAB M5, M6 and M7.
Peterson BA, Levine EG
Semin Oncol 1987 Dec;14(4):425-34. PMID: 3321447

Prognosis

Erythroid/megakaryocytic differentiation confers BCL-XL dependency and venetoclax resistance in acute myeloid leukemia.
Kuusanmäki H, Dufva O, Vähä-Koskela M, Leppä AM, Huuhtanen J, Vänttinen I, Nygren P, Klievink J, Bouhlal J, Pölönen P, Zhang Q, Adnan-Awad S, Mancebo-Pérez C, Saad J, Miettinen J, Javarappa KK, Aakko S, Ruokoranta T, Eldfors S, Heinäniemi M, Theilgaard-Mönch K, Wartiovaara-Kautto U, Keränen M, Porkka K, Konopleva M, Wennerberg K, Kontro M, Heckman CA, Mustjoki S
Blood 2023 Mar 30;141(13):1610-1625. doi: 10.1182/blood.2021011094. PMID: 36508699Free PMC Article
Cytogenetics of Pediatric Acute Myeloid Leukemia: A Review of the Current Knowledge.
Quessada J, Cuccuini W, Saultier P, Loosveld M, Harrison CJ, Lafage-Pochitaloff M
Genes (Basel) 2021 Jun 17;12(6) doi: 10.3390/genes12060924. PMID: 34204358Free PMC Article
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
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
Transient myeloproliferative disorder.
Moiz B, Shafiq M
Blood 2012 Dec 6;120(24):4672. doi: 10.1182/blood-2012-07-440917. PMID: 23350067

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
JAK: Not Just Another Kinase.
Agashe RP, Lippman SM, Kurzrock R
Mol Cancer Ther 2022 Dec 2;21(12):1757-1764. doi: 10.1158/1535-7163.MCT-22-0323. PMID: 36252553Free PMC Article
A potential role for α-actinin in inside-out αIIbβ3 signaling.
Tadokoro S, Nakazawa T, Kamae T, Kiyomizu K, Kashiwagi H, Honda S, Kanakura Y, Tomiyama Y
Blood 2011 Jan 6;117(1):250-8. Epub 2010 Oct 12 doi: 10.1182/blood-2009-10-246751. PMID: 20940419
Gene expression profiling in acute myeloid leukaemia (AML).
Bacher U, Kohlmann A, Haferlach C, Haferlach T
Best Pract Res Clin Haematol 2009 Jun;22(2):169-80. doi: 10.1016/j.beha.2009.04.003. PMID: 19698926
Transcription factor GATA-1 and Down syndrome leukemogenesis.
Muntean AG, Ge Y, Taub JW, Crispino JD
Leuk Lymphoma 2006 Jun;47(6):986-97. doi: 10.1080/10428190500485810. PMID: 16840187

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