NF1 mutations are recurrent in adult acute myeloid leukemia and confer poor outcome.

ABSTRACT: Targeted mutation assessment of 81 genes in 1021 adults with de novo acute myeloid leukemia (AML) identified recurrent mutations in the neurofibromin 1 (NF1) gene in 52 (5.1%) patients, including 36 (5.2%) younger and 16 (4.8%) older patients, which suggests NF1 belongs to the 20 most frequently mutated genes in adult AML. NF1 mutations were found throughout the gene, and comprised missense, frameshift, and nonsense mutations. One mutation hotspot, at amino acid threonine 676 (Thr676), was found in 27% of AML patients with NF1 mutations. NF1-mutated patients belonged more often to the adverse European LeukemiaNet (ELN) risk category than NF1 wild-type patients. Among patients aged <60 years, the presence of NF1 Thr676 mutations was associated with lower complete remission (CR) rates (P?=?0.04) and shorter overall survival (OS; P?=?0.01), as was the presence of any NF1 mutation in patients in the adverse ELN risk category (CR, P?=?0.05; OS, P?

SUBMITTER: Eisfeld AK 

PROVIDER: S-EPMC6281863 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature