{"title":"Research progress of SF3B1 gene mutation in myelodysplastic syndrome with ringed sideroblasts","authors":"Runhong Bi, A. Sun","doi":"10.3760/CMA.J.ISSN.1673-419X.2019.05.014","DOIUrl":null,"url":null,"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. \n \n \nKey words: \nMyelodysplastic syndrome; Spliceosomes; RNA splicing factors; Mutations; Splicing factor 3 subunit 1 gene; Ringed sideroblast","PeriodicalId":13774,"journal":{"name":"国际输血及血液学杂志","volume":"42 1","pages":"446-449"},"PeriodicalIF":0.0000,"publicationDate":"2019-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"国际输血及血液学杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3760/CMA.J.ISSN.1673-419X.2019.05.014","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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
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.
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