费城染色体阴性骨髓增殖性肿瘤体细胞突变的研究现状

Research Status of Somatic Mutation in Philadelphia Chromosome-negative Myeloproliferative Neoplasms

费城染色体阴性的骨髓增殖性肿瘤是近年来研究的热点,目前该疾病基因突变的情况已经在很大程度上被发现。表型驱动基因突变活化JAK-STAT信号通路在疾病发生中起中心作用,其他参与表观遗传调控、信使RNA剪接、转录调控、细胞信号传导的基因突变与表型驱动基因突变的协同作用,在疾病中起关键作用。疾病的异质性和预后都由特定的基因组格局决定,不同的驱动基因及伴随基因突变可以导致不同的临床表型及预后,突变发生顺序不同也与不同的临床表型相关。本文主要对费城染色体阴性骨髓增殖性肿瘤的表型驱动突变、特异性与非特异性突变研究情况进行综述,旨在加强对患者突变基因的了解,帮助临床决策及评估预后。

Philadelphia chromosome-negative Myeloproliferative Neoplasms have been the focus in recent years.Genetic mutations have been largely discovered in the disease.Phenotypicdriven mutations activating the JAK-STAT signaling pathway plays a central role in the pathogenesis of the disease,while other gene mutations involved in epigenetic regulation,messenger RNA splicing,transcription regulation,and cell signal transduction cooperated with phenotypic driver mutationsplay a key role in the disease.Both heterogeneity and prognosis of the disease are determined by a specific genomic landscape.Different driving genes and accompanying gene mutations can lead to different clinical phenotypes and prognosis,and the different sequence of mutations is also related to different clinical phenotypes.This article mainly reviews the research status of phenotypic driver mutations,specific and non-specific mutations in Philadelphia chromosome-negative myeloproliferative neoplasms,with the aim of strengthening the understanding of patients'mutation genes,helping clinical decision-making and evaluating prognosis.