伴RUNX1突变髓系肿瘤42例临床特征和疗效分析

OBJECTIVE: To investigate the survival and prognostic factors of allogeneic hematopoietic stem-cell transplantation (allo-HSCT) for patients with myeloid neoplasms and RUNX1 mutations. METHODS: From July 2014 to April 2018, the clinical data of forty-two AML/MDS patients with RUNX1 mutations in the First Affiliated Hospital of Soochow University were retrospectively analyzed. The clinical characteristic features and distribution of the mutations frequently observed with RUNX1 mutations were summarized, the prognosis of allo-HSCT for these patients was also analyzed. RESULTS: Among 42 AML/MDS patients with RUNX1 mutations, 27 were male, 15 were female. The median age was 43.5 (16–68) years old. There are 31 patients in allo-HSCT group and 11 patients in chemotherapy group. RUNX1 mutations co-occurred with many other gene mutations, the most frequent mutations were FLT3 (26.2%, 11/42). Interestingly, FLT3 mutations only occurred in AML patients compared with MDS patients (P=0.014). ASXL1 (25%, 3/12) mutations were observed as the most frequent co-mutations in MDS patients. One-year overall survival (OS), disease-free survival (DFS) of allo-HSCT and chemotherapy patients were (70.6±9.0)%, (61.0±9.4)% and (34.4±16.7)%, (22.4±15.3)%, respectively. When OS and DFS between allo-HSCT and chemotherapy patients were compared, significant differences (χ(2)=4.843, 4.320, P<0.05) were showed. In univariate analysis, transplant age >45 years was a negative effect for OS [HR=4.819 (95% CI 1.145–20.283), P=0.032] and DFS [HR=5.945 (95% CI 1.715–20.604), P=0.005]. Also, complex chromosome karyotype abnormality was a negative effect for OS [HR=5.572 (95%CI 1.104–28.113), P=0.038]. CONCLUSION: Transplant age (>45 years) and complex chromosome karyotype abnormality were negative prognostic factors in allo-HSCT for myeloid neoplasms patients with RUNX1 mutations.