CAJ | 학술논문

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。
목적연구골수증생이상종합정( MDS)중관우RNA전접인자3B제1아단위(SF3B1)기인돌변적검출솔，진일보분석기여림상특정적관계。방법수집70례혈액병환자골수표본，채용취합매련식반응기술( PCR)확증목적편단，수후진행직접측서검측SF3B1돌변정황。결과52례MDS환자중유4례발생SF3B1기인돌변，발생솔위7.7%，돌변류형균위K700E。돌변발생재배형철립유세포( RS)증다적MDS위3/4례，발생솔위75%。돌변환자현시교장시간적생존기，단병례수교소。결론반 RS 증다적 MDS 환자중SF3B1돌변상견，돌변양성환자구유독특적림상특정화교호적예후。
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.