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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 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

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
The treatment of children with acute megakaryoblastic leukemia who have Down syndrome.
Zipusky A
J Pediatr Hematol Oncol 1996 Feb;18(1):10-2. doi: 10.1097/00043426-199602000-00003. PMID: 8556363
Acute megakaryoblastic leukemia in children: treatment with bone marrow transplantation.
de Oliveira JS, Sale GE, Bryant EM, Sanders J, Buckner CD
Bone Marrow Transplant 1992 Nov;10(5):399-403. PMID: 1463999

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
Non-seminomatous mediastinal germ cell tumor and acute megakaryoblastic leukemia.
Mukherjee S, Ibrahimi S, John S, Adnan MM, Scordino T, Khalil MO, Cherry M
Ann Hematol 2017 Sep;96(9):1435-1439. Epub 2017 Jun 3 doi: 10.1007/s00277-017-3037-3. PMID: 28578457
Neonatal and adult megakaryopoiesis.
Liu ZJ, Sola-Visner M
Curr Opin Hematol 2011 Sep;18(5):330-7. doi: 10.1097/MOH.0b013e3283497ed5. PMID: 21738028
Acute megakaryoblastic leukemia.
Gassmann W, Löffler H
Leuk Lymphoma 1995;18 Suppl 1:69-73. doi: 10.3109/10428199509075307. PMID: 7496359

Diagnosis

CBFA2T3-GLIS2-dependent pediatric acute megakaryoblastic leukemia is driven by GLIS2 and sensitive to navitoclax.
Neault M, Lebert-Ghali CÉ, Fournier M, Capdevielle C, Garfinkle EAR, Obermayer A, Cotton A, Boulay K, Sawchyn C, St-Amand S, Nguyen KH, Assaf B, Mercier FE, Delisle JS, Drobetsky EA, Hulea L, Shaw TI, Zuber J, Gruber TA, Melichar HJ, Mallette FA
Cell Rep 2023 Sep 26;42(9):113084. Epub 2023 Sep 15 doi: 10.1016/j.celrep.2023.113084. PMID: 37716355
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
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
Pediatric non-Down syndrome acute megakaryoblastic leukemia is characterized by distinct genomic subsets with varying outcomes.
de Rooij JD, Branstetter C, Ma J, Li Y, Walsh MP, Cheng J, Obulkasim A, Dang J, Easton J, Verboon LJ, Mulder HL, Zimmermann M, Koss C, Gupta P, Edmonson M, Rusch M, Lim JY, Reinhardt K, Pigazzi M, Song G, Yeoh AE, Shih LY, Liang DC, Halene S, Krause DS, Zhang J, Downing JR, Locatelli F, Reinhardt D, van den Heuvel-Eibrink MM, Zwaan CM, Fornerod M, Gruber TA
Nat Genet 2017 Mar;49(3):451-456. Epub 2017 Jan 23 doi: 10.1038/ng.3772. PMID: 28112737Free PMC Article

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
Dual-Specificity, Tyrosine Phosphorylation-Regulated Kinases (DYRKs) and cdc2-Like Kinases (CLKs) in Human Disease, an Overview.
Lindberg MF, Meijer L
Int J Mol Sci 2021 Jun 3;22(11) doi: 10.3390/ijms22116047. PMID: 34205123Free 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
Myeloid leukemia in Down syndrome.
Khan I, Malinge S, Crispino J
Crit Rev Oncog 2011;16(1-2):25-36. doi: 10.1615/critrevoncog.v16.i1-2.40. PMID: 22150305Free PMC Article

Prognosis

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
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
Pediatric Acute Megakaryoblastic Leukemia: Multitasking Fusion Proteins and Oncogenic Cooperations.
Lopez CK, Malinge S, Gaudry M, Bernard OA, Mercher T
Trends Cancer 2017 Sep;3(9):631-642. Epub 2017 Aug 18 doi: 10.1016/j.trecan.2017.07.003. PMID: 28867167

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
Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2: A case report.
Gillam J, Catic A, Paulraj P, Dalton J, Lai G, Jackson-Cook C, Turner S, Ferreira-Gonzalez A, Barrie E
Genes Chromosomes Cancer 2022 Aug;61(8):491-496. Epub 2022 Mar 30 doi: 10.1002/gcc.23039. PMID: 35294081Free PMC Article
Mining for JAK-STAT mutations in cancer.
Constantinescu SN, Girardot M, Pecquet C
Trends Biochem Sci 2008 Mar;33(3):122-31. doi: 10.1016/j.tibs.2007.12.002. PMID: 18291658
Platelet functions and clinical effects in acute myelogenous leukemia.
Foss B, Bruserud O
Thromb Haemost 2008 Jan;99(1):27-37. doi: 10.1160/TH07-04-0240. PMID: 18217131

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