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Br J Haematol ; 204(3): 939-944, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38054248

ABSTRACT

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 CEBPAbZIP 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.


Subject(s)
Leukemia, Myeloid, Acute , Nuclear Proteins , Humans , Nuclear Proteins/genetics , Nucleophosmin , Leukemia, Myeloid, Acute/genetics , Trisomy , Mutation , Karyotype , Prognosis , fms-Like Tyrosine Kinase 3/genetics
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