Research progress on spliceosome mutations in myelodysplastic syndromes
10.3969/j.issn.1000-8179.2017.19.144
- VernacularTitle:骨髓增生异常综合征剪接体突变的研究进展
- Author:
HUANG LINNA
1
;
LIU PENGQIN
Author Information
1. 南华大学附属郴州第一人民医院检验科 湖南省郴州市423000
- Keywords:
myelodysplastic syndromes;
spliceosome;
mutations;
targeted therapy
- From:
Chinese Journal of Clinical Oncology
2017;44(19):1000-1004
- CountryChina
- Language:Chinese
-
Abstract:
Spliceosomal dysfunction plays a major role in pathogenesis of myelodysplastic syndrome (MDS). Splicing factor somatic mutations, including SF3B1, U2AF1 (U2AF35), SRSF2, ZRSR2, PRPF40B, SF1, SF3A1, and U2AF2, comprise a common (45%–85%) class of mutated genes in MDS. These genes exist in a mutually exclusive manner at the 3'splice site of mRNA processing and are predomi-nantly heterozygous and missense. RNA splicing might have therapeutic and prognosis values in MDS. This review mainly describes the pathogenesis of common splicing factor gene mutations in MDS and discusses possible therapeutic implications, clinical analysis, and prognosis.
