U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
Evolution of myeloid leukemia in children with Down syndrome.
Saida S
Int J Hematol 2016 Apr;103(4):365-72. Epub 2016 Feb 24 doi: 10.1007/s12185-016-1959-5. PMID: 26910243
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.
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
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
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
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
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
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
Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome.
Malinge S, Izraeli S, Crispino JD
Blood 2009 Mar 19;113(12):2619-28. Epub 2009 Jan 12 doi: 10.1182/blood-2008-11-163501. PMID: 19139078Free PMC Article
Optimizing therapy for myeloid disorders of Down syndrome.
Webb DK
Br J Haematol 2005 Oct;131(1):3-7. doi: 10.1111/j.1365-2141.2005.05700.x. PMID: 16173956
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

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
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
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
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
The biology of pediatric acute megakaryoblastic leukemia.
Gruber TA, Downing JR
Blood 2015 Aug 20;126(8):943-9. Epub 2015 Jul 17 doi: 10.1182/blood-2015-05-567859. PMID: 26186939Free PMC Article

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
Development of acute megakaryoblastic leukemia in Down syndrome is associated with sequential epigenetic changes.
Malinge S, Chlon T, Doré LC, Ketterling RP, Tallman MS, Paietta E, Gamis AS, Taub JW, Chou ST, Weiss MJ, Crispino JD, Figueroa ME
Blood 2013 Oct 3;122(14):e33-43. Epub 2013 Aug 26 doi: 10.1182/blood-2013-05-503011. PMID: 23980066Free PMC Article
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...