Distinct karyotypic and mutational landscape in trisomy AML.

Autor: Lam SSY; Division of Haematology, Department of Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Tsui SP; Division of Haematology, Department of Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.; Department of Pathology, Queen Mary Hospital, Hong Kong SAR, China., Fung CY; Division of Haematology, Department of Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Saw NY; School of Biomedical Sciences, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Javed A; School of Biomedical Sciences, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Ip AHW; Department of Pathology, Queen Mary Hospital, Hong Kong SAR, China., Ma ESK; Division of Molecular Pathology, Department of Pathology, Hong Kong Sanitorium & Hospital, Hong Kong SAR, China., Leung AYH; Division of Haematology, Department of Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.; The Jockey Club Centre for Clinical Innovation and Discovery, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.; Centre for Oncology and Immunology, Hong Kong Science Park, Hong Kong SAR, China.
Jazyk: angličtina
Zdroj: British journal of haematology [Br J Haematol] 2024 Mar; Vol. 204 (3), pp. 939-944. Date of Electronic Publication: 2023 Dec 06.
DOI: 10.1111/bjh.19249
Abstrakt: 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 bZIP 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.
(© 2023 British Society for Haematology and John Wiley & Sons Ltd.)
Databáze: MEDLINE
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