目的 采用二代测序技术(NGS)检测 73 例确诊的骨髓增生异常综合征(MDS)存在的基因突变,描述其临床特征及突变基因与预后的相关性研究.方法 回顾性分析自 2016 年 4 月至 2022 年 6 月就诊于安徽省立医院的 73 例接受二代测序技术检测基因突变的MDS患者.收集患者的性别、年龄、染色体核型、基因突变情况,明确WHO(2016)分型、IPSS-R危险度评分,统计生存时间及生存状态等.分析与归纳基因突变频率在性别、年龄、染色体核型、分型与危险度分层等分布的差异性.分析不同基因突变等对MDS患者预后及总生存时间(OS)的影响.结果 在 73 例MDS患者中,共检测到 29 种基因突变,其中,79.45%的患者至少发生 1 个基因突变,30.14%的患者仅发生 1 个基因突变,21.92%的患者发生 2 个基因突变,27.40%的患者发生 3个及以上基因突变,20.55%的患者未检测到突变.突变基因TP53、TET2、SRSF2在老年MDS患者中发生率较高,差异有统计学意义(P<0.05);DNMT3A、SF3B1、IDH1、WT1突变基因在各WHO分型之间分布的差异有统计学意义(P<0.05);TP53、U2AF1 突变基因在不同染色体核型中分布差异有统计学意义(P<0.05).TP53 基因突变与预后不良相关,差异有统计学意义(P<0.05).结论 79.45%的MDS患者存在基因突变,部分突变基因在不同年龄、WHO(2016)分型、染色体核型等分布存在差异,本研究基于单中心的 73 例MDS患者数据,通过NGS评估分析患者的基因突变与临床特征和预后的关系,为临床指导MDS差异化治疗提供循证医学依据.
Objective To explore the relationship between results of detecting gene mutations in 73 patients with myelodysplastic syndrome(MDS)by second-generation sequencing technology,relevant clinical characteristics,and prognosis.Methods A retrospective analysis was conducted on 73 MDS patients who underwent second-generation sequencing technology to detect gene mutations at Anhui Provincial Hospital from April 2016 to June 2022.By collecting the patients'gender,age,chromosome karyotype,and gene mutation status,the WHO(2016)typing,IPSS-R risk score,and statistical survival time and status were determined.The differences in gene mutation frequency distribution in gender,age,chromosome karyotype,typing,and risk stratification were analyzed and summarized.The impact of different gene mutations on the prognosis and overall survival(OS)of MDS patients was analyzed.Results In 73 MDS patients,a total of 29 gene mutations were detected,among which 79.45%of patients had at least one gene mutation,30.14%had only one gene mutation,21.92%had two gene mutations,27.40%had three or more gene mutations,and 20.55%had no mutations detected.Mutated genes such as TP53,TET2,and SRSF2 have a higher incidence in elderly MDS patients,with statistically significant difference(P<0.05).There was statistically significant difference in the distribution of mutation genes such as DNMT3A,SF3B1,IDH1,and WT1 among different WHO subtypes(P<0.05).There was statistically significant difference in the distribution of mutation genes such as TP53 and U2AF1 with chromosomal karyotypes(P<0.05).TP53 gene mutations are associated with poor prognosis,with statistically significant difference(P<0.05).Conclusion 79.45%of MDS patients have genetic mutations;There are differences in the distribution of some mutated genes among different ages,WHO(2016)typing,and chromosomal karyotypes.This study is based on the data of 73 MDS patients from a single center,and analyzes the correlation between gene mutations,clinical characteristics,and prognosis of patients through NGS evaluation,providing evidence-based medicine basis for guiding differential treatment of MDS in clinical practice.
王利萍;李凤丽;汪安友;王兴兵;刘欣
中国科学技术大学附属第一医院 安徽省立医院血液科,安徽合肥 230001
临床医学
骨髓增生异常综合征;基因突变;二代测序;生存期;预后
Myelodysplastic syndrome;Gene mutation;Second-generation sequencing;Survival;Prognosis
《中国医药科学》 2024 (005)
15-19,84 / 6
10.20116/j.issn2095-0616.2024.05.03
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