[Molecular pathogenesis and treatment of core binding factor-acute myeloid leukemia].

Core binding factor-acute myeloid leukemia (CBF-AML) comprises AML with t (8;21) (p22;q22) and inv16 (q16q16) /t (16;16) (q16;q16) and accounts for 20% of AML cases. The 2016 WHO classification categorized CBF-AML under AML with recurrent genetic abnormalities and considered it as a favorable risk group with a higher remission rate and better overall survival with high-dose cytarabine post-remission therapy. However, relapse occurs in approximately 40% of patients, thereby necessitating the establishment of risk stratification and risk-adapted therapy in CBF-AML. In CBF-AML, activating kinase mutations in KIT, FLT3, and NRAS have frequently been detected, and their clinical impact on the prognosis has been discussed for a decade. Recent clinical trials have evaluated the clinical significance of minimal residual disease (MRD) and the efficacy of molecular-targeted therapy to enhance the outcome. However, recent comprehensive genetic studies have revealed several additional genetic alterations in CBF-AML. While t (8;21) -AML and inv (16) -AML have different characteristics in coexisting gene mutations, their biological and clinical significance remain largely unknown. Overall, CBF-AML is a genetically and clinically heterogeneous disease entity, and it is imperative to elucidate its leukemogenesis and the mechanisms of resistance to develop a new treatment strategy based on the molecular basis.