Chinese Journal of Clinical Oncology 2017;44(19):1000-1004

doi:10.3969/j.issn.1000-8179.2017.19.144

Research progress on spliceosome mutations in myelodysplastic syndromes

HUANG LINNA 1 ; LIU PENGQIN

Affiliations

+expand

Keywords

myelodysplastic syndromes; spliceosome; mutations; targeted therapy

Country

China

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.