Mutation topography and risk stratification of acute myeloid leukemia

Acute myeloid leukemia with biallelic CEBPA mutations was defined as a unique population with favorable prognosis in the revised 2016 WHO classification of AML. Consolidation chemotherapy, instead of a transplantation, was recommended in these patients. However, recent studies found that this population was still heterogeneous with relapse rate reaching approximately 40%. The optimal therapy is controversial in clinical practice. This study aimed to identify the genomic heterogeneity in patients with this genotype by targeted region sequencing and investigate the prognostic significance of co-mutated genes. We performed risk stratification by the prognostically genes in combination with clinical data and finally, proposed risk-adapted post-remission therapy in this population.