血液肿瘤中的常见剪接体突变研究进展

Research Progress on Spliceosome Mutations in Hematopoietic Malignancy——Review

近年来,随着全外显子/基因组测序技术在血液肿瘤中的应用,剪接体突变作为新的体细胞突变在多种血液肿瘤中被发现。因此,除外DNA甲基化、染色体修饰、转录调控、DNA修复和信号转导等机制外,剪接体突变为认识血液肿瘤的发病机制提供了新的观点。本综述介绍了剪接体的结构和功能,同时讨论血液肿瘤中常见的剪接体突变基因(如SF3B1、U2AF35、SRSF2及ZRSR2等)的突变频率、突变类型、临床表型及其对疾病预后的影响。

As novel somatic mutations,spliceosome mutations have been identified in recent years w ith the advent of w hole exone / genome sequencing technology in hematopoietic malignancy. These new findings provide another view to understand these diseases other than DNA methylation,chromatin modification,transcription regulation,DNA repair and signal transduction. In this review,the structure as w ell as function of spliceosome are introduced and the common mutations such as SF3B1, U2AF35, SRSF2 and ZRSR2 as w ell as their frequency, mutation versions, clinical phenotypies and effects on prognosis are discussed.