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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

Epigenetic drug screen identifies the histone deacetylase inhibitor NSC3852 as a potential novel drug for the treatment of pediatric acute myeloid leukemia.
Wiggers CRM, Govers AMAP, Lelieveld D, Egan DA, Zwaan CM, Sonneveld E, Coffer PJ, Bartels M
Pediatr Blood Cancer 2019 Aug;66(8):e27785. Epub 2019 May 1 doi: 10.1002/pbc.27785. PMID: 31044544
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

Recent clinical studies

Etiology

Haematopoietic cell transplantation for children with acute megakaryoblastic leukaemia without Down syndrome.
Hama A, Taga T, Tomizawa D, Muramatsu H, Hasegawa D, Adachi S, Yoshida N, Noguchi M, Sato M, Okada K, Koh K, Mitsui T, Takahashi Y, Miyamura T, Hashii Y, Kato K, Atsuta Y, Okamoto Y
Br J Haematol 2023 May;201(4):747-756. Epub 2023 Feb 14 doi: 10.1111/bjh.18691. PMID: 36786154
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
Biology and management of transient abnormal myelopoiesis (TAM) in children with Down syndrome.
Roy A, Roberts I, Vyas P
Semin Fetal Neonatal Med 2012 Aug;17(4):196-201. Epub 2012 Mar 14 doi: 10.1016/j.siny.2012.02.010. PMID: 22421527
GATA1 in normal and malignant hematopoiesis.
Crispino JD
Semin Cell Dev Biol 2005 Feb;16(1):137-47. Epub 2004 Dec 13 doi: 10.1016/j.semcdb.2004.11.002. PMID: 15659348
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

Is it primary myelofibrosis or chronic megakaryocytic leukemia?
Lichtman MA
Haematologica 2022 Dec 1;107(12):2779-2781. doi: 10.3324/haematol.2022.280838. PMID: 35295083Free 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: 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
Platelet morphology analysis.
Latger-Cannard V, Fenneteau O, Salignac S, Lecompte TP, Schlegel N
Methods Mol Biol 2013;992:207-25. doi: 10.1007/978-1-62703-339-8_16. PMID: 23546716
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

Therapy

Haematopoietic cell transplantation for children with acute megakaryoblastic leukaemia without Down syndrome.
Hama A, Taga T, Tomizawa D, Muramatsu H, Hasegawa D, Adachi S, Yoshida N, Noguchi M, Sato M, Okada K, Koh K, Mitsui T, Takahashi Y, Miyamura T, Hashii Y, Kato K, Atsuta Y, Okamoto Y
Br J Haematol 2023 May;201(4):747-756. Epub 2023 Feb 14 doi: 10.1111/bjh.18691. PMID: 36786154
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
JAK3: a two-faced player in hematological disorders.
Cornejo MG, Boggon TJ, Mercher T
Int J Biochem Cell Biol 2009 Dec;41(12):2376-9. Epub 2009 Sep 9 doi: 10.1016/j.biocel.2009.09.004. PMID: 19747563Free PMC Article

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: 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
Malignant disorders of megakaryocytes.
Cripe LD, Hromas R
Semin Hematol 1998 Jul;35(3):200-9. PMID: 9685166

Clinical prediction guides

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
AMKL chimeric transcription factors are potent inducers of leukemia.
Dang J, Nance S, Ma J, Cheng J, Walsh MP, Vogel P, Easton J, Song G, Rusch M, Gedman AL, Koss C, Downing JR, Gruber TA
Leukemia 2017 Oct;31(10):2228-2234. Epub 2017 Feb 8 doi: 10.1038/leu.2017.51. PMID: 28174417Free PMC Article
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
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
Megakaryocyte markers in myeloproliferative disorders.
Iványi JL, Kiss A, Telek B, Tornai I
Acta Histochem 1993 Sep;95(1):79-88. doi: 10.1016/S0065-1281(11)80393-4. PMID: 7506475

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