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Acute megakaryoblastic leukemia in down syndrome

MedGen UID:
831192
•Concept ID:
CN207426
•
Disease or Syndrome
Synonyms: acute megakaryoblastic leukemia in down syndrome; Acute megakaryoblastic leukemia in Down syndrome; 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:0020526
Orphanet: ORPHA99887

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Acute megakaryoblastic leukemia in down syndrome
Follow this link to review classifications for Acute megakaryoblastic leukemia in down syndrome in Orphanet.

Professional guidelines

PubMed

Down syndrome and leukemia: An insight into the disease biology and current treatment options.
Barwe SP, Kolb EA, Gopalakrishnapillai A
Blood Rev 2024 Mar;64:101154. Epub 2023 Nov 25 doi: 10.1016/j.blre.2023.101154. PMID: 38016838
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

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
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
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
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
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
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
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
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: 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
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

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
Hh/Gli antagonist in acute myeloid leukemia with CBFA2T3-GLIS2 fusion gene.
Masetti R, Bertuccio SN, Astolfi A, Chiarini F, Lonetti A, Indio V, De Luca M, Bandini J, Serravalle S, Franzoni M, Pigazzi M, Martelli AM, Basso G, Locatelli F, Pession A
J Hematol Oncol 2017 Jan 21;10(1):26. doi: 10.1186/s13045-017-0396-0. PMID: 28109323Free 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

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