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

国际输血及血液学杂志 Pub Date : 2019-09-20 DOI:10.3760/CMA.J.ISSN.1673-419X.2019.05.014

Runhong Bi, A. Sun

引用次数: 0

Abstract

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. Key words: Myelodysplastic syndrome; Spliceosomes; RNA splicing factors; Mutations; Splicing factor 3 subunit 1 gene; Ringed sideroblast

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SF3B1基因突变在骨髓增生异常综合征伴环状成铁细胞中的研究进展

剪接体突变在骨髓增生异常综合征（MDS）的发生和发展中起着重要作用。相关突变包括SF3B1、U2AF1（U2AF35）、SRSF2、ZRSR2、SF1、SF3A1和U2AF2基因突变。进一步了解信使核糖核酸剪接对MDS的靶向治疗和预后具有指导作用。70%～85%的低rick骨髓增生异常综合征伴环状成铁细胞（MDS-RS）与SF3B1基因突变有关。许多研究表明，SF3B1基因突变与MDS-RS患者的预后之间存在显著相关性。作者综述了SF3B1基因突变与MDS-RS关系的最新研究进展，以及SF3B1突变的MDS-RS患者的治疗和预后。关键词：骨髓增生异常综合征；剪接体；RNA剪接因子；突变；剪接因子3亚单位1基因；环状成铁细胞

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来源期刊

国际输血及血液学杂志

自引率

0.00%

发文量

10610

期刊介绍： The International Journal of Transfusion and Hematology was founded in September 1978. It is a comprehensive academic journal in the field of transfusion and hematology, supervised by the National Health Commission and co-sponsored by the Chinese Medical Association, West China Second Hospital of Sichuan University, and the Institute of Transfusion Medicine of the Chinese Academy of Medical Sciences. The journal is a comprehensive academic journal that combines the basic and clinical aspects of transfusion and hematology and is publicly distributed at home and abroad. The International Journal of Transfusion and Hematology mainly reports on the basic and clinical scientific research results and progress in the field of transfusion and hematology, new experiences, new methods, and new technologies in clinical diagnosis and treatment, introduces domestic and foreign research trends, conducts academic exchanges, and promotes the development of basic and clinical research in the field of transfusion and hematology.