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 predominantly 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.