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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.
 
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

Complete trisomy 21 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.

Professional guidelines

PubMed

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
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
Zipusky A
J Pediatr Hematol Oncol 1996 Feb;18(1):10-2. doi: 10.1097/00043426-199602000-00003. PMID: 8556363

Recent clinical studies

Etiology

Alejo-Valle O, Weigert K, Bhayadia R, Ng M, Issa H, Beyer C, Emmrich S, Schuschel K, Ihling C, Sinz A, Zimmermann M, Wickenhauser C, Flasinski M, Regenyi E, Labuhn M, Reinhardt D, Yaspo ML, Heckl D, Klusmann JH
Blood 2022 Feb 3;139(5):651-665. doi: 10.1182/blood.2021012231. PMID: 34570885Free PMC Article
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
Crispino JD, Horwitz MS
Blood 2017 Apr 13;129(15):2103-2110. Epub 2017 Feb 8 doi: 10.1182/blood-2016-09-687889. PMID: 28179280Free PMC Article
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
Liu ZJ, Sola-Visner M
Curr Opin Hematol 2011 Sep;18(5):330-7. doi: 10.1097/MOH.0b013e3283497ed5. PMID: 21738028

Diagnosis

Gress V, Roussy M, Boulianne L, Bilodeau M, Cardin S, El-Hachem N, Lisi V, Khakipoor B, Rouette A, Farah A, Théret L, Aubert L, Fatima F, Audemard É, Thibault P, Bonneil É, Chagraoui J, Laramée L, Gendron P, Jouan L, Jammali S, Paré B, Simpson SM, Tran TH, Duval M, Teira P, Bittencourt H, Santiago R, Barabé F, Sauvageau G, Smith MA, Hébert J, Roux PP, Gruber TA, Lavallée VP, Wilhelm BT, Cellot S
Blood Adv 2024 Jan 9;8(1):112-129. doi: 10.1182/bloodadvances.2022008899. PMID: 37729615Free PMC Article
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
Wertheim G
Clin Lab Med 2021 Sep;41(3):541-550. doi: 10.1016/j.cll.2021.04.002. PMID: 34304781
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
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

Aslan NA, Gülten G
Indian J Pathol Microbiol 2024 Apr 1;67(2):425-427. Epub 2023 Apr 14 doi: 10.4103/ijpm.ijpm_233_22. PMID: 38391335
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
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
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
Foss B, Bruserud O
Thromb Haemost 2008 Jan;99(1):27-37. doi: 10.1160/TH07-04-0240. PMID: 18217131

Prognosis

Pastore F, Gittinger H, Raab S, Tschuri S, Ksienzyk B, Konstandin NP, Schneider S, Rothenberg-Thurley M, Horny HP, Werner M, Sauerland MC, Amler S, Görlich D, Berdel WE, Wörmann B, Braess J, Hiddemann W, Tischer J, Herold T, Metzeler KH, Spiekermann K
Br J Haematol 2023 Sep;202(6):1165-1177. Epub 2023 Jul 16 doi: 10.1111/bjh.18982. PMID: 37455345
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
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
Qi H, Mao Y, Cao Q, Sun X, Kuai W, Song J, Ma L, Hong Z, Hu J, Zhou G
Med Sci Monit 2020 Jun 13;26:e922662. doi: 10.12659/MSM.922662. PMID: 32532951Free PMC Article
McNulty M, Crispino JD
Cold Spring Harb Perspect Med 2020 Feb 3;10(2) doi: 10.1101/cshperspect.a034884. PMID: 31548219Free PMC Article

Clinical prediction guides

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
Sandahl JD, Kjeldsen E, Abrahamsson J, Ha SY, Heldrup J, Jahnukainen K, Jónsson OG, Lausen B, Palle J, Zeller B, Forestier E, Hasle H
Genes Chromosomes Cancer 2014 Aug;53(8):667-75. Epub 2014 Apr 18 doi: 10.1002/gcc.22177. PMID: 24753324
Foss B, Bruserud O
Thromb Haemost 2008 Jan;99(1):27-37. doi: 10.1160/TH07-04-0240. PMID: 18217131
Paredes-Aguilera R, Romero-Guzman L, Lopez-Santiago N, Trejo RA
Am J Hematol 2003 Jun;73(2):71-80. doi: 10.1002/ajh.10320. PMID: 12749007
Zipursky A, Poon A, Doyle J
Pediatr Hematol Oncol 1992 Apr-Jun;9(2):139-49. doi: 10.3109/08880019209018329. PMID: 1388043

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