摘要： 目的 应用二代测序技术对确诊及疑似诊断骨髓增生异常综合症（MDS）的患者进行基因突变检测，以分析不同类型MDS患者基因突变谱系。方法 选择2015年8月至2019年12月就诊于中国医科大学附属盛京医院的确诊及疑似MDS患者288例，应用二代测序技术检测患者的基因突变，分析各突变在不同类型MDS患者中的分布差异及确诊MDS与疑似MDS患者的突变谱系差异。结果 在201例确诊患者中，基因突变存在年龄差异，SF3B1、ASXL1突变好发于老年组、TP53突变好发于中老年组、ETV6、SETBP1突变好发于青年组；基因突变存在分型差异，SF3B1突变关联MDS伴环形铁粒幼红细胞增多（MDS-RS）、TET2突变相较MDS伴原始细胞增多（MDS-EB）更好发于MDS-RS患者；基因突变存在染色体危险分级差异，IDH2突变好发于分级差组、TP53突变好发于极差组。相较于疑似MDS患者的突变，确诊患者更易获得ASXL1、NRAS和TP53基因突变。结论 MDS患者突变谱系存在年龄、型别及核型分级差异，并与疑似病例间存在突变差异。这些特异性改变可能为MDS的诊断和预后判断提供帮助。

288例确诊及疑似骨髓增生异常综合征患者基因突变分析

傅煜, 张赫楠, 姜若腾, 符爽, 张继红

中国医科大学附属盛京医院血液研究室, 沈阳 110022

收稿日期:2020-06-04出版日期:2021-03-30发布日期:2021-03-20
通讯作者:张继红E-mail:zhangjh1@sj-hospital.org
作者简介:傅煜(1984-),女,主管技师,硕士.
基金资助:国家自然科学基金（82070165）；辽宁省科学技术计划项目社发重大专项（2019JH1/10300005）


关键词: 骨髓增生异常综合症, 基因突变, 二代测序
Abstract: Objective To detect the distribution of gene mutations in patients with myelodysplastic syndrome (MDS) of different clinical types,based on next-generation sequencing technology (NGS). Methods Specimens were collected from newly diagnosed MDS patients (201 cases) and suspected patients (87 cases) from August 2015 to December 2019 at Shengjing Hospital of China Medical University. Seventeen genes were detected using NGS to analyze the differences in patients. Results In newly diagnosed MDS patients,differences were observed depending on the age,clinical type,and karyotype. SF3B1 and ASXL1 gene mutations were common in elderly patients,TP53 mutations were common in middle-aged and elderly patients,while ETV6 and SETBP1 mutations were more common in younger patients. SF3B1 mutations were strongly related to the type of MDS-RS. Compared with the type of MDS-EB,TET2 mutations usually occur in patients with an MDS-RS type. IDH2 gene mutations were related to the poor-risk karyotype group,and TP53 mutations tended to occur in the very poor-risk karyotype group. Compared to suspected patients,diagnosed MDS patients harbored remarkable ASXL1,NRAS,and TP53 gene mutations. Conclusion Gene mutations in MDS patients exhibit distinct differences depending on the age,clinical type,and karyotype,and there are also differences between the diagnosed and suspected patients. These differences may aid MDS clinical diagnosis,prognosis assessment,and risk stratification.
Key words: myelodysplastic syndrome, gene mutation, next generation sequencing
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