[Clinical characteristics and prognosis of acute myeloid leukemia patients with RUNX1 single-site and multiple-site gene mutations].
AI interpretation is pending for this paper.
Open original publication →What the AI sees
Not AI summarized yet.
Research significance
Pending deeper interpretation.
Source abstract
Objective: To compare the clinical characteristics and prognosis of patients with acute myeloid leukemia (AML) harboring single-site versus multi-site mutations in the RUNX1 gene. Methods: This study was a retrospective cohort study. 145 patients with RUNX1-mutated AML treated at the First Affiliated Hospital of Soochow University between June 2017 and June 2023 were selected. Single-site RUNX1 mutations were observed in 123 patients, whereas multi-site mutations were detected in 22 patients. The outcomes of interest included overall survival (OS), recurrence-free survival (RFS), and the first-course induction remission rate, defined as the sum of complete remission and complete remission with incomplete hematologic recovery. Results: A total of 145 patients with RUNX1-mutated AML were included, including 87 males and 58 females, with a median age of 49 years (range, 17-78 years). The two groups showed no significant differences in age, sex composition, peripheral blood counts at diagnosis, karyotype, fusion genes, or risk stratification (all P>0.05). The median number of co-occurring gene mutations was 3 (range, 0-11) in the single-site group and 5 (range, 2-10) in the multi-site group, indicating a significantly higher number in the latter (P=0.001). However, the distribution of co-occurring mutations did not differ significantly between groups (P>0.05). There were no significant between-group differences in the first-course induction remission rate (53.3% vs 50.0%, P=0.819), median OS (45.67 vs 36.53 months, P=0.942), or median RFS (17.13 vs 21.17 months, P=0.679). In the single-site mutation group, patients undergoing allogeneic hematopoietic stem cell transplantation (allo-HSCT) achieved 3-year OS and RFS rates of 74.7% and 58.5%, respectively, significantly higher than the 31.2% and 27.9% among those without transplantation (both P<0.001). In the multi-site mutation group, the 3-year OS and RFS rates were 69.2% and 69.2%, respectively, among allo-HSCT recipients, significantly higher than 33.3% and 0, respectively, among nonrecipients (P=0.003 and P=0.001, respectively). Multivariate Cox proportional hazards analysis identified allo-HSCT as an independent protective factor for OS (single-site group: HR=0.256, P<0.001; multi-site group: HR=0.164, P=0.043) and RFS (single-site group: HR=0.528, P=0.025; multi-site group: HR=0.142, P=0.030) . Conclusion: Patients with AML harboring single-site and multi-site RUNX1 mutations did not differ significantly in clinical characteristics, treatment response, or long-term prognosis. Allo-HSCT was associated with improved survival outcomes in both groups.