120例SF3B1基因突变骨髓增生异常综合征患者特征分析

Characteristics analysis of 120 myelodysplastic syndromes patients with SF3B1 gene mutation

目的分析SF3B1基因突变骨髓增生异常综合征(MDS)患者的临床特征、生物学特点及生存特征。方法回顾性纳入2018年8月~2021年8月我院初诊MDS患者120例,根据是否存在SF3B1基因突变将其分为SF3B1基因突变组(22例)与SF3B1基因野生组(98例),根据是否为K700E突变将SF3B1基因突变组患者再分为K700E突变组(12例)和非K700E突变组(10例),根据SF3B1基因合并其他基因突变的数量将SF3B1基因突变组患者再分为合并基因突变<2种组(15例)和合并基因突变≥2种组(7例)。收集所有患者的一般资料、实验室检查结果、WHO分型、染色体分析结果、国际预后积分系统(IPSS)、WHO分型预后积分系统(WPSS)及修订版IPSS(IPSS-R)危险度分层、生存情况并分组进行比较。采用Kaplan-Meier法进行生存分析。结果120例患者中SF3B1基因突变率为18.3%。SF3B1基因突变组PLT计数、血清铁蛋白(SF)水平及MDS伴环状铁粒幼红细胞增多(MDS-RS)患者比例均高于SF3B1基因野生组,骨髓原始细胞(BM blast)比例、MDS伴原始细胞增多(MDS-EB)患者比例均低于SF3B1基因野生组(P<0.01)。MDS-RS患者SF3B1基因突变率显著高于非MDS-RS患者(P<0.001)。SF3B1基因突变组正常染色体、IPSS较低危、WPSS较低危、IPSS-R较低危患者比例均高于SF3B1基因野生组(P<0.05)。K700E突变组与非K700E突变组、合并基因突变<2种组和合并基因突变≥2种组患者一般资料和实验室检查结果比较差异均无统计学意义(P>0.05)。SF3B1基因突变组患者中位总生存期(OS)较SF3B1基因野生组明显延长(P=0.022)。结论SF3B1基因突变MDS患者显示出较为低危的临床特征,预后较好,是否为K700E突变及合并2种及以上基因突变对临床特征无影响。

Objective To investigate the clinical,biological and survival characteristics of myelodysplastic syndromes(MDS)patients with SF3B1 gene mutation.Methods A total of 120 newly diagnosed MDS patients in our hospital from August 2018 to August 2021 were retrospectively included.According to the presence or absence of SF3B1 gene mutation,120 MDS patients were divided into SF3B1 gene mutation group(22 cases)and SF3B1 gene wild group(98 cases).According to whether or not K700E mutation was present,the 22 patients in SF3B1 gene mutation group were divided into K700E mutation group(12 cases)and non-K700E mutation group(10 cases).According to the number of other gene mutations combined with SF3B1 gene,22 patients in SF3B1 gene mutation group were divided into combined gene mutation<2 group(15 cases)and combined gene mutation≥2 group(7 cases).General data,laboratory examination result,WHO typing,chromosome analysis results,International Prognostic Score System(IPSS),WHO Classification Prognostic Scoring System(WPSS),and revised version IPSS(IPSS-R)risk stratification,survival of all patients were collected and compared in groups.Survival analysis was performed by Kaplan-Meier method.Results The mutation rate of SF3B1 gene in 120 patients was 18.3%.PLT count and serum ferritin(SF)level,the proportion of MDS with ring sideroblasts(MDS-RS)in SF3B1 gene mutant group were higher than those in SF3B1 gene wild group,while the proportion of bone marrow blast cell(BM blast)and MDS with excessive blasts(MDS-EB)were lower than those in SF3 B1 gene wild group(P<0.01).The SF3 B1 gene mutation rate in MDS-RS patients was significantly higher than that in non-MDS-RS patients(P<0.001).The proportions of patients with normal chromosome,low risk IPSS,low risk WPSS and low risk IPSS-R in SF3 B1 gene mutant group were higher than those in SF3 B1 gene wild group(P<0.05).There was no significant difference in general and laboratory examination result between K700E mutation group and non-K700E mutation group,combined gene mutation<2 group and combined gene mutation≥2 group(P>0.05).Median overall survival(OS)was significantly longer in SF3 B1 gene mutant group than that in SF3 B1 gene wild group(P=0.022).Conclusion MDS patients with SF3 B1 gene mutation present relatively low risk clinical characteristics and better prognosis.K700E mutation and two or more comutations have no influence on clinical characteristics.