Mutational spectrum and prognostic stratification of intermediate-risk acute myeloid leukemia

The mutational spectrum and prognostic stratification of intermediate-risk acute myeloid leukemia (IR-AML), which accounts for a substantial number of AML, are unclear. In order to explore the prognostic significance of the mutational spectrum in IR-AML, 106 IR-AML patients were collected from The Cancer Genome Atlas database. Sixty-two patients underwent chemotherapy-only, forty-four proceeded to allogeneic hematopoietic stem cell transplantation (allo-HSCT). Fifty-five patients had more than five recurrent genetic mutations. NPM1had the highest mutation frequency, followed by DNMT3A, FLT3, RUNX1, IDH2, IDH1, and TET2. In all patients, allo-HSCT was an independent favorable factor for EFS and OS (P= 0.036, P= 0.001, respectively); age ≥60 years, FLT3-ITDand mutations in DNMT3Aand RUNX1were independent risk factors for survival (all P< 0.05). In the chemotherapy-only group, multivariate analysis showed that age ≥60 years was an independent risk factor for EFS and OS (P= 0.008, P= 0.017, respectively). In the allo-HSCT group, multivariate analysis indicated that MLL-PTDwas an independent risk fact for EFS (P= 0.037), FLT3-ITDand RUNX1mutations independently contributed to poor OS (P= 0.035, P= 0.014, respectively). In conclusion, older age was an important risk factor for IR-AML patients undergoing chemotherapy-only; FLT3-ITD, MLL-PTD and RUNX1mutations were significant risk factors for IR-AML patients who received allo-HSCT.