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Acute Megakaryoblastic Leukemia with NUP98-KDM5A

MedGen UID:
1391707
•Concept ID:
C4329267
•
Neoplastic Process
Synonym: Acute Megakaryoblastic Leukemia with NUP98::KDM5A

Definition

A non-Down syndrome acute megakaryoblastic leukemia that occurs in childhood. It is associated with t(11;12)(p15;p13) which results in the presence of NUP98-KDM5A chimeric oncogene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcute Megakaryoblastic Leukemia with NUP98-KDM5A

Recent clinical studies

Etiology

Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia-related malignancies.
Lalonde E, Rentas S, Wertheim G, Cao K, Surrey LF, Lin F, Zhao X, Obstfeld A, Aplenc R, Luo M, Li MM
Cold Spring Harb Mol Case Stud 2021 Apr;7(2) Epub 2021 Apr 8 doi: 10.1101/mcs.a005975. PMID: 33832921Free PMC Article
Prognostic impact of specific molecular profiles in pediatric acute megakaryoblastic leukemia in non-Down syndrome.
Hara Y, Shiba N, Ohki K, Tabuchi K, Yamato G, Park MJ, Tomizawa D, Kinoshita A, Shimada A, Arakawa H, Saito AM, Kiyokawa N, Tawa A, Horibe K, Taga T, Adachi S, Taki T, Hayashi Y
Genes Chromosomes Cancer 2017 May;56(5):394-404. Epub 2017 Feb 14 doi: 10.1002/gcc.22444. PMID: 28063190
Recurrent abnormalities can be used for risk group stratification in pediatric AMKL: a retrospective intergroup study.
de Rooij JD, Masetti R, van den Heuvel-Eibrink MM, Cayuela JM, Trka J, Reinhardt D, Rasche M, Sonneveld E, Alonzo TA, Fornerod M, Zimmermann M, Pigazzi M, Pieters R, Meshinchi S, Zwaan CM, Locatelli F
Blood 2016 Jun 30;127(26):3424-30. Epub 2016 Apr 25 doi: 10.1182/blood-2016-01-695551. PMID: 27114462Free PMC Article

Diagnosis

Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia-related malignancies.
Lalonde E, Rentas S, Wertheim G, Cao K, Surrey LF, Lin F, Zhao X, Obstfeld A, Aplenc R, Luo M, Li MM
Cold Spring Harb Mol Case Stud 2021 Apr;7(2) Epub 2021 Apr 8 doi: 10.1101/mcs.a005975. PMID: 33832921Free PMC Article
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
Recurrent abnormalities can be used for risk group stratification in pediatric AMKL: a retrospective intergroup study.
de Rooij JD, Masetti R, van den Heuvel-Eibrink MM, Cayuela JM, Trka J, Reinhardt D, Rasche M, Sonneveld E, Alonzo TA, Fornerod M, Zimmermann M, Pigazzi M, Pieters R, Meshinchi S, Zwaan CM, Locatelli F
Blood 2016 Jun 30;127(26):3424-30. Epub 2016 Apr 25 doi: 10.1182/blood-2016-01-695551. PMID: 27114462Free PMC Article

Prognosis

NUP98-BPTF gene fusion identified in primary refractory acute megakaryoblastic leukemia of infancy.
Roussy M, Bilodeau M, Jouan L, Tibout P, Laramée L, Lemyre E, Léveillé F, Tihy F, Cardin S, Sauvageau C, Couture F, Louis I, Choblet A, Patey N, Gendron P, Duval M, Teira P, Hébert J, Wilhelm BT, Choi JK, Gruber TA, Bittencourt H, Cellot S
Genes Chromosomes Cancer 2018 Jun;57(6):311-319. Epub 2018 Mar 28 doi: 10.1002/gcc.22532. PMID: 29427526
Prognostic impact of specific molecular profiles in pediatric acute megakaryoblastic leukemia in non-Down syndrome.
Hara Y, Shiba N, Ohki K, Tabuchi K, Yamato G, Park MJ, Tomizawa D, Kinoshita A, Shimada A, Arakawa H, Saito AM, Kiyokawa N, Tawa A, Horibe K, Taga T, Adachi S, Taki T, Hayashi Y
Genes Chromosomes Cancer 2017 May;56(5):394-404. Epub 2017 Feb 14 doi: 10.1002/gcc.22444. PMID: 28063190
Recurrent abnormalities can be used for risk group stratification in pediatric AMKL: a retrospective intergroup study.
de Rooij JD, Masetti R, van den Heuvel-Eibrink MM, Cayuela JM, Trka J, Reinhardt D, Rasche M, Sonneveld E, Alonzo TA, Fornerod M, Zimmermann M, Pigazzi M, Pieters R, Meshinchi S, Zwaan CM, Locatelli F
Blood 2016 Jun 30;127(26):3424-30. Epub 2016 Apr 25 doi: 10.1182/blood-2016-01-695551. PMID: 27114462Free PMC Article

Clinical prediction guides

Recurrent abnormalities can be used for risk group stratification in pediatric AMKL: a retrospective intergroup study.
de Rooij JD, Masetti R, van den Heuvel-Eibrink MM, Cayuela JM, Trka J, Reinhardt D, Rasche M, Sonneveld E, Alonzo TA, Fornerod M, Zimmermann M, Pigazzi M, Pieters R, Meshinchi S, Zwaan CM, Locatelli F
Blood 2016 Jun 30;127(26):3424-30. Epub 2016 Apr 25 doi: 10.1182/blood-2016-01-695551. PMID: 27114462Free PMC Article

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