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
•
Disease or Syndrome
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
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
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
Increased dosage of the RUNX1/AML1 gene: a third mode of RUNX leukemia?
Osato M, Ito Y
Crit Rev Eukaryot Gene Expr 2005;15(3):217-28. doi: 10.1615/critreveukargeneexpr.v15.i3.40. PMID: 16390318
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
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
A dysmorphic newborn with petechiae and a 'Big Heart'.
Oh LZ, Ng PM, Quah TC
BMJ Case Rep 2014 Apr 4;2014 doi: 10.1136/bcr-2014-204195. PMID: 24706711Free 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

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
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
A rare case of GATA1 negative chemoresistant acute megakaryocytic leukemia in an 8-month-old infant with trisomy 21.
Stepensky P, Brooks R, Waldman E, Revel-Vilk S, Izraeli S, Resnick I, Weintraub M
Pediatr Blood Cancer 2010 Jul 1;54(7):1048-9. doi: 10.1002/pbc.22331. PMID: 20108342
High leukaemia cure rate in Down's syndrome explained.
Bradbury J
Lancet Oncol 2005 Mar;6(3):134. doi: 10.1016/s1470-2045(05)01753-5. PMID: 15759357

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
Transient abnormal myelopoeisis in newborns with Down syndrome.
Zarina AL, Hamidah A, Yong SC, Rohana J, Hamidah NH, Azma RZ, Boo NY, Jamal R
Malays J Pathol 2007 Dec;29(2):107-11. PMID: 19108403
Transient leukaemia--a benign form of leukaemia in newborn infants with trisomy 21.
Zipursky A
Br J Haematol 2003 Mar;120(6):930-8. doi: 10.1046/j.1365-2141.2003.04229.x. PMID: 12648061

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
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
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
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

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...