Variants Increased Relapse Risk in Adult Acute Myeloid Leukemia.

: The role of gene mutations in acute myeloid leukemia (AML) remains poorly understood. This study aimed to evaluate the impact of mutations on relapse risk, cumulative incidence of relapse (CIR), relapse-free survival (RFS), and overall survival (OS) in adult AML patients, with a particular focus on those with fusion. : the retrospective analysis was conducted on 1970 adult AML patients treated at Peking University People's Hospital. Of these, 1676 patients who achieved complete remission (CR) were included. Among them, 27 harbored mutations. Propensity score matching (PSM) was used (1:10 ratio) to compare outcomes between patients with and without mutations. Further analysis focused on 207 patients with fusion, among whom 13 had mutations (PSM 1:5). : In the overall cohort, variants ( = 27) had a higher 2-year CIR (45.7% vs. 28.6%, = 0.04). Fine-Gray analysis showed variants independently increased relapse risk (HR = 1.98 [1.08-3.63], = 0.03). mutations were associated with inferior 2-year RFS (36.3% vs. 60.9%, = 0.044). Multivariable analysis confirmed mutations as independent predictors of poor RFS (HR = 3.08 [1.56-6.08], = 0.001). Among patients, mutations significantly increased relapse risk (75.0% vs. 21.7%, < 0.001), raised 2-year CIR (46.9% vs. 24.0%, = 0.05), worsened 2-year RFS (31.3% vs. 71.9%, < 0.001), and lowered 2-year OS (63.3% vs. 86.4%, = 0.002). They were also independent predictors of CIR (HR = 2.46 [1.11-5.47], = 0.03), RFS (HR = 5.1, [2.5-10.5], < 0.001) and OS (HR = 12.9, [4.3-38.7], < 0.001). : mutations are significantly associated with increased relapse risk and poor prognosis in AML, especially in patients with fusion, and may serve as a valuable prognostic biomarker.