Distinct karyotypic and mutational landscape in trisomy AML

Trisomy karyotype occurs in 5%-10% of AML. Its mutational landscape and prognostic significance are not well defined. A cohort of 156 trisomy AML patients was analysed, with reference to 615 cytogenetically normal (CN) AML patients. Trisomy AML showed distinct mutational landscape with more prevalen...

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Bibliographic Details
Published in:British journal of haematology 2024-03, Vol.204 (3), p.939-944
Main Authors: Lam, Stephen S Y, Tsui, Sze P, Fung, C Y, Saw, Nicole Y, Javed, Asif, Ip, Alvin H W, Ma, Edmond S K, Leung, Anskar Y H
Format: Article
Language:English
Subjects:
Karyotypes
Mutation
Trisomy
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Summary:Trisomy karyotype occurs in 5%-10% of AML. Its mutational landscape and prognostic significance are not well defined. A cohort of 156 trisomy AML patients was analysed, with reference to 615 cytogenetically normal (CN) AML patients. Trisomy AML showed distinct mutational landscape with more prevalent SMC1A, N/KRAS, ASXL1 and BCOR but fewer CEBPA and NPM1 mutations in patients ≤60, and fewer NPM1 mutations in those >60. NRAS mutations were associated with poor outcome in trisomy AML, whereas DNMT3A and FLT3-ITD mutations had neutral effect. Trisomy AML appeared biologically distinct from CN-AML.
ISSN:0007-1048
1365-2141
DOI:10.1111/bjh.19249