SF3B1基因突变在骨髓增生异常综合征伴环形铁粒幼细胞增多中的研究进展  

Research progress of SF3B1 gene mutation in myelodysplastic syndrome with ringed sideroblasts

作　　者：毕润红 孙爱红[2] Bi Runhong;Sun Aihong(Department of Clinical Medicine, School of Medicine, Yangzhou University, Yangzhou 225001, Jiangsu Province, China;Department of Hematology, Northern Jiangsu People′s Hospital, Yangzhou 225001, Jiangsu Province, China)

机构地区：[1]扬州大学临床医学院,225001 [2]江苏省苏北人民医院血液科,扬州225001

出　　处：《国际输血及血液学杂志》2019年第5期446-449,共4页International Journal of Blood Transfusion and Hematology

摘　　要：剪接体突变在骨髓增生异常综合征(MDS)的发生、发展中发挥重要作用,包括SF3B1、U2AF1(U2AF35)、SRSF2、ZRSR2、SF1、SF3A1及U2AF2相关基因突变等。进一步了解mRNA剪接对MDS的靶向治疗及改善患者预后具有指导作用。70%~85%低危骨髓增生异常综合征伴环形铁粒幼细胞增多(MDS-RS)患者存在SF3B1基因突变。多项研究结果表明,MDS-RS患者预后与SF3B1基因突变具有显著相关性关系。笔者拟就SF3B1突变基因与MDS-RS的关系,以及伴SF3B1突变基因的MDS-RS患者的治疗及预后的最新研究进展进行综述。Spliceosome mutations play an important role in the occurrence and development of myelodysplastic syndrome (MDS). The related mutations include SF3B1, U2AF1 (U2AF35), SRSF2, ZRSR2, SF1, SF3A1 and U2AF2 gene mutation. Further understanding of mRNA splicing has a guiding role in the targeted therapy and prognosis of MDS. 70%~85% low rick myelodysplastic syndrome with ringed sideroblasts (MDS-RS) is associated with SF3B1 gene mutation. A number of studies have shown a significant correlation between SF3B1 gene mutation and prognosis of MDS-RS patients. The authors review the latest research progress of relationship between SF3B1 gene mutation and MDS-RS, and the treatment and prognosis of MDS-RS patients with SF3B1 gene mutation.

关 键 词：骨髓增生异常综合征 剪接体 RNA剪接因子 基因突变 SF3B1基因 环形铁粒幼细胞 

分 类 号：R733[医药卫生—肿瘤]