摘要目的 研究伴RUNX1突变髓系肿瘤的临床特征和异基因造血干细胞移植(allo-HSCT)的疗效.方法 回顾性分析2014年7月至2018年4月在苏州大学附属第一医院行二代测序检出RUNX1基因突变的42例髓系肿瘤患者的临床资料.结果 全部42例伴RUNX1突变髓系肿瘤患者中,男27例,女15例,中位年龄43.5(16～68)岁,急性髓系白血病(AML)30例,骨髓增生异常综合征(MDS)12例.共突变基因中频率最高的是FLT3 (26.2％,11/42),携带FLT3共突变基因的均为AML患者(P=0.014).而MDS患者中最常见的共突变为ASXL1 (25％,3/12).allo-HSCT组(31例)1年总生存(OS)、无病生存(DFS)率分别为(70.6±9.0)％、(61.0±9.4)％,化疗组(11例)1年OS、DFS率分别为(34.4±16.7)％、(22.4±15.3)％,两组OS、DFS率差异有统计学意义(Z=4.843,P=0.036;x2=4.320,P=0.047).单因素分析提示移植年龄＞45岁为影响患者OS及DFS的预后不良因素[HR=4.819(95％CI1.145～ 20.283),P=0.032;HR=5.945 (95％CI 1.715～ 20.604),P=0.005],染色体核型复杂异常为影响OS的预后不良因素[HR=5.572 (95％CI 1.104～ 28.113),P=0.038].结论 allo-HSCT可以改善伴RUNX1突变髓系肿瘤患者预后,移植年龄＞45岁、染色体核型复杂异常是影响allo-HSCT疗效的不良预后因素.

abstractsObjective 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 (x2 =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.