SF3B1基因突变与骨髓增生异常综合征伴环形铁粒幼细胞增多

SF3B1Gene Mutation and Myelodysplastic Syndromes with Ring Sideroblast Excess——Review

骨髓增生异常综合征(MDS)是一种克隆性的造血干细胞疾病,以病态造血为特征,机制多样,预后不同。环形铁粒幼细胞(ring sideroblasts,RS)增多是MDS病态造血的重要表现,其机制不清,治疗困难。剪接因子在真核生物mRNA的成熟过程中发挥了重要作用。最近发现,剪接因子3B第1亚单位(SF3B1)基因突变与MDS-RS的发病密切相关,呈因果关系。深入研究SF3B1突变后的下游分子通路,对于明确MDS-RS的发病机制,寻找治疗靶点具有重要意义。

Myelodysplastic syndromes（MDS） are heterogeneous clonal hematopoietic stem cell disorders with different mechanisms and diverse prognosis.The excess of ring sideroblasts（RS） is an important presentation MDS,but the mechanisms of RS appearance are obscure and the treatment of MDS-RS is intractable.Splicing factors play a very important role in the maturation process of eucaryon mRNA,recent studies indicate that there is a significant causal relationship between splicing factor 3B subunit 1（SF3B1） mutation and the presence of ring sideroblasts.Lucubrating the downstream molecular of the mutated SF3B1 can facilitate exploring the mechanisms and new therapeutic strategies of MDS-RS.