骨髓增生异常综合征患者SF3B1基因突变的检测及意义  

Detection and clinical significance of SF3B1 gene mutation in myelodysplastic syndrome

作　　者：许婧[1] 孙自敏[1] 徐修才[1] 伍权[1] 汪健[1] 纪濛濛 

机构地区：[1]安徽医科大学附属省立医院血液科,合肥230001

出　　处：《安徽医科大学学报》2014年第10期1440-1443,共4页Acta Universitatis Medicinalis Anhui

基　　金：安徽省十二五科技攻关项目资助(编号:11010402164)

摘　　要：目的研究骨髓增生异常综合征(MDS)中关于RNA剪接因子3B第1亚单位(SF3B1)基因突变的检出率,进一步分析其与临床特征的关系。方法收集70例血液病患者骨髓标本,采用聚合酶链式反应技术(PCR)扩增目的片段,随后进行直接测序检测SF3B1突变情况。结果 52例MDS患者中有4例发生SF3B1基因突变,发生率为7.7%,突变类型均为K700E。突变发生在环形铁粒幼细胞(RS)增多的MDS为3/4例,发生率为75%。突变患者显示较长时间的生存期,但病例数较少。结论伴RS增多的MDS患者中SF3B1突变常见,突变阳性患者具有独特的临床特征和较好的预后。Objective In order to evaluate the incidence of Splicing factor 3 subunit 1 （ SF3 B1 ） gene mutation in patients with myelodysplastic syndrome（ MDS） and its clinical and prognostic significance. Methods Polymerase chain reaction （PCR） was used to expand the target fragment before detecting mutations of SF3B1 gene in 70 pa-tients with hematologic disease. Results SF3B1 mutations were identified in 4 of 52（7. 7%） patients including 4 cases of K700E mutation. SF3B1 mutations were mostly found with ringed sideroblast（3/4）. The proportion of sub-jects with SF3B1 mutations in MDS with RS was 75%. The mutation cases showed longer survival time,but the number of cases was too small. Conclusion It is concluded that SF3B1 mutation is frequent in MDS with in-creased RS patients. SF3B1 mutation patients have unique clinical features and better prognosis.

关 键 词：SF3B1基因 骨髓增生异常综合征 聚合酶链式反应 

分 类 号：R551.3[医药卫生—血液循环系统疾病]