Mutational spectrum and associations with clinical features in patients with acute myeloid leukaemia based on next-generation sequencing

The aim of the present study was to examine the associations between 112 acute myeloid leukaemia (AML)-associated genes and the prognosis and clinical features of AML using bioinformatics analysis in 62 patients with AML. A total of 61 gene mutations were identified, and ≥1 mutations were detected in 96.77% of the patients. A total of 11 frequent mutations were identified, including nucleophosmin 1 (NPM1), Fms related tyrosine kinase 3 (FLT3), DNA methyltransferase 3α (DNMT3A) and Notch 2 (NOTCH2), with a mutation rate of ≥10%. The FLT3 mutation was significantly associated with the white blood cell count at the time of diagnosis, and DNMT3A was significantly associated with the French-American-British subtype and cytogenetics of patients with AML. The FLT3, NPM1 and DNMT3A mutations were significantly associated with a poor overall survival (OS) in patients with AML. In addition, the co-mutation of DNMT3A-CCAAT enhancer binding protein α (CEBPA) was observed to be significantly associated with a poor OS in patients with AML. Furthermore, the functional enrichment analysis revealed that the co-mutations of FLT3-NOTCH2, SETBP1-CREBBP and DNMT3A-CEBPA were significantly enriched in processes of ‘negative regulation of cell differentiation’ and ‘immune system development’, indicating that these mutations may serve crucial roles in the diagnosis and treatment of AML.