Next-generation sequencing reveals gene mutations landscape and clonal evolution in patients with acute myeloid leukemia

Objectives The study aims to understand geneome diversi?cation and complexity that developed in Acute myeloid leukemia (AML).Methods Next-generation sequencing (NGS) was used identify the genetic pro?les of 22 genes relevant hematological malignancy 204 patients with de novo non-M3 AML.Results At time initial diagnosis, at least one mutation identified 80.9% (165/204). most commonly mutated gene NPM1 (22.1%), followed by ASXL1 (18.1%), TET2 IDH2 (15.7%), CEBPA (14.7%), FLT3-ITD (13.2%) DNMT3A (11.8%). Mutations landscape analysis indicated several patterns co-occurring mutual exclusive mutations. Some correlation observed between mutations clinicohematological features. Multivariate showed age >60 years, karyotypes, KIT were independent unfavorable prognostic factors for OS; NPM1-mut/ FLT3-ITD-wt independently correlated prolonged whereas poor risk RFS high WBC RUNX1 mutation. According different genotype demonstrated multivariate analysis, 163 intermediate-risk cytogenetics classified into three subgroups: or biallelic as favorable risk, KIT, IDH2, TP53 NRAS remaining intermediate risk. We also obtain information clonal evolution during progression observing five who underwent repeat NGS relapse our cohort.Conclusion techniques is a useful tool discovering related AML genomes, leading novel targeted therapeutic approaches could improve outcomes.