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Acute megakaryoblastic leukemia without down syndrome

MedGen UID:
1843134
•Concept ID:
C5679860
•
Neoplastic Process
Synonyms: acute megakaryoblastic leukemia without down syndrome; Acute megakaryoblastic leukemia without Down syndrome; Non-DS-AMKL; non-DS-AMKL
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)
 
Monarch Initiative: MONDO:0018004
Orphanet: ORPHA329469

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Acute megakaryoblastic leukemia without 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

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
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
Human phenotypes associated with GATA-1 mutations.
Ciovacco WA, Raskind WH, Kacena MA
Gene 2008 Dec 31;427(1-2):1-6. Epub 2008 Sep 30 doi: 10.1016/j.gene.2008.09.018. PMID: 18930124Free PMC Article
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
Acute megakaryoblastic leukemia.
Gassmann W, Löffler H
Leuk Lymphoma 1995;18 Suppl 1:69-73. doi: 10.3109/10428199509075307. PMID: 7496359

Diagnosis

Infant Acute Leukemia.
Wertheim G
Clin Lab Med 2021 Sep;41(3):541-550. doi: 10.1016/j.cll.2021.04.002. PMID: 34304781
Acute Megakaryoblastic Leukemia Leading to the Diagnosis of Germline Trisomy 21 Mosaicism.
Savla D, Del Campo M, Masser-Frye D, Kuo DJ
J Pediatr Hematol Oncol 2020 May;42(4):299-301. doi: 10.1097/MPH.0000000000001753. PMID: 32068651
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
Transient myeloproliferative disorder.
Moiz B, Shafiq M
Blood 2012 Dec 6;120(24):4672. doi: 10.1182/blood-2012-07-440917. PMID: 23350067
Acute megakaryoblastic leukemia.
Gassmann W, Löffler H
Leuk Lymphoma 1995;18 Suppl 1:69-73. doi: 10.3109/10428199509075307. PMID: 7496359

Therapy

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
Outcome and Prognostic Features in Pediatric Acute Megakaryoblastic Leukemia Without Down Syndrome: A Retrospective Study in China.
Wang Y, Lu A, Jia Y, Zuo Y, Zhang L
Clin Lymphoma Myeloma Leuk 2021 Apr;21(4):e301-e308. Epub 2020 Nov 6 doi: 10.1016/j.clml.2020.11.001. PMID: 33257285
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
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
Acute megakaryoblastic leukemia in children and adolescents: a retrospective analysis of 24 cases.
Ribeiro RC, Oliveira MS, Fairclough D, Hurwitz C, Mirro J, Behm FG, Head D, Silva ML, Raimondi SC, Crist WM
Leuk Lymphoma 1993 Jul;10(4-5):299-306. doi: 10.3109/10428199309148552. PMID: 8220128

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
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
Transient myeloproliferative disorder.
Moiz B, Shafiq M
Blood 2012 Dec 6;120(24):4672. doi: 10.1182/blood-2012-07-440917. PMID: 23350067
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
Susceptibility to leukemia and resistance to solid tumors in Down syndrome.
Zipursky A
Pediatr Res 2000 Jun;47(6):704. doi: 10.1203/00006450-200006000-00002. PMID: 10832723

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
Haematopoietic development and leukaemia in Down syndrome.
Roberts I, Izraeli S
Br J Haematol 2014 Dec;167(5):587-99. Epub 2014 Aug 22 doi: 10.1111/bjh.13096. PMID: 25155832
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
Leukemia in Down syndrome: a review.
Zipursky A, Poon A, Doyle J
Pediatr Hematol Oncol 1992 Apr-Jun;9(2):139-49. doi: 10.3109/08880019209018329. PMID: 1388043
Human immunodeficiency virus infection of megakaryocytic cells.
Sakaguchi M, Sato T, Groopman JE
Blood 1991 Feb 1;77(3):481-5. PMID: 1991165

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