伴SF3B1突变骨髓增生异常肿瘤的研究新进展

Research advances on SF3B1 mutation in myelodysplastic neoplasms

骨髓增生异常肿瘤(MDS)是一种高异质性血液系统克隆性疾病。在2016年世界卫生组织(WHO)MDS修订分型中,伴环状铁粒幼红细胞的MDS(MDS-RS)被列为单独亚型。剪接因子3b亚基(SF3B)1突变是MDS,特别是MDS-RS中常见的体细胞驱动突变之一,亦为疾病表型最重要的影响因素。SF3B1突变是MDS发生及向急性髓细胞白血病(AML)转化的独立预后因素,也是部分药物疗效预测的关键指标,因此伴SF3B1突变MDS被列为MDS的特殊类型,并成为相关研究热点。笔者拟就伴SF3B1突变MDS的发病机制、临床表现、预后及治疗等方面的研究新进展进行阐述,旨在提高临床医师及相关研究者对于伴SF3B1突变MDS的认识。

Myelodysplastic neoplasm(MDS)is a highly heterogeneous clonal disease of the hematological system.In the revised classification of MDS by the World Health Organization(WHO)in 2016,MDS with ring-shaped sideroblasts(MDS-RS)was classified as a separate subtype.Splicing factor 3b subunit(SF3B)1 mutation is one of common somatic drivers mutations in MDS,especially in MDS-RS,and the most important influencing factor of disease phenotype.SF3B1 mutation is an independent prognostic factor for the occurrence and transformation of MDS to AML,and is a key indicator for predicting the efficacy of some drugs.Therefore,MDS with SF3B1 mutation is listed as a special type of MDS,becoming a hot topic in related research.This article intends to elabrate advances in the pathogenesis,clinical manifestation,prognosis,and treatment of MDS patients with SF3B1 mutation,in order to improve the understanding of clinicians and relevant researchers on MDS with SF3B1 mutation.