[Clinical characteristics of RUNX1-mutated acute myeloid leukemia patients]

We retrospectively analyzed the RUNX1 mutation status and clinical characteristics of 323 newly diagnosed acute myeloid leukemia (AML) patients treated in the Second Affiliated Hospital of Anhui Medical University from February 2018 to May 2023. The mutation rate of RUNX1 in AML patients was 11.5% with a median mutation frequency of 40.4%. RUNX1 mutations often coexisted with other mutations, such as ASXL1, but were mutually exclusive with NPM1 mutations. AML patients with RUNX1 mutations were older (median age: 65 vs 55 years, P<0.01), had a lower complete remission rate (39.4% vs 79.8% P<0.01), higher relapse (75.0% vs 48.8%, P<0.05) and mortality (91.4% vs 59.5%, P<0.01) rates, shorter median overall survival (OS) (5.9 vs 20.1 months, P<0.01) and relapse-free survival (RFS) (9.5 vs 46.5 months, P<0.01). A high RUNX1 mutation frequency was associated with increased mortality (100.0% vs 76.5%, P<0.05) and shorter RFS (7.2 vs 12.2 months, P<0.05). Different induction therapies (chemotherapy/low-intensity treatment) showed no significant impact on the efficacy or prognosis of patients with RUNX1 mutations (P>0.05). Patients with concurrent RUNX1 and DNMT3A or ASXL1 mutations portend a poorer prognosis, and the cooccurrence of FLT3-ITD mutation further leads to inferior therapeutic outcomes.