二代测序技术检测基因突变在骨髓增生异常综合征的应用:现况与问题

Application of Next-generation Sequencing Detecting Gene Mutation in Myelodysplastic Syndromes:Current Situation and Problems

二代测序技术检测基因突变已被推荐为疑似骨髓增生异常综合征(MDS)患者的必检项目。近年来,基于基因突变界定了一系列MDS前驱性疾病、MDS伴SF3B1新亚型和加入基因突变的预后积分系统,基因突变指导下的治疗策略的制定和调整也已形成初步共识。现阶段我国二代测序技术亟待规范化,未来整合组学在临床的应用定将开启MDS个体化医疗新时代。

The next-generation sequencing detecting gene mutation has been recommended for the routine diagnosis of suspicious myelodysplastic symdromes patients.Recently,several pre-MDS conditions,a new subtype MDS with SF3B1,gene mutations integrated prognosis scores and gene mutations-based clinical decision-making and treatment choice were proposed.Nowadays,it is a big problem to standardize the generation,analysis,clinical interpretation and reporting of NGS data in China.It will open new horizons for individualized medicine of patients with MDS in the future by implementing integrated genomics into the diagnostic and treatment algorithms.