无锡市胃癌患者基因变异与临床病理相关性分析  

Correlation analysis between the gene mutation and clinicopathological features in gastric cancer patients in Wuxi area

作　　者：葛晓松[1] 王晓莉[2] 刘晓媛[3] 沈才路 张颖[1] 沈娣 GE Xiaosong;WANG Xiaoli;LIU Xiaoyuan;SHEN Cailu;ZHANG Ying;SHEN Di(Department of Oncology,Affiliated Hospital of Jiangnan University,Wuxi 214000,Jiangsu,China)

机构地区：[1]江南大学附属医院肿瘤内科,江苏无锡214000 [2]江南大学附属医院病理科,江苏无锡214000 [3]江南大学附属医院药剂科,江苏无锡214000

出　　处：《皖南医学院学报》2025年第2期142-145,共4页Journal of Wannan Medical College

基　　金：国家自然科学基金青年项目(81502042);江苏省自然科学基金青年项目(BK20140171);江苏省卫生健康委员会指导性项目(Z2023020)。

摘　　要：目的:探索无锡市胃癌患者肿瘤标本中基因变异情况及其与临床病理资料的相关性。方法:采用二代测序法检测50例胃癌标本中基因变异情况,同时收集患者临床病理资料,分析基因变异与年龄、性别、肿瘤分化程度、分期、神经脉管侵犯等的相关性。随访患者病历资料,评估二代测序在胃癌治疗中的指导价值。结果:在50例测序样本中共检测到203个基因的438个突变,包括点突变、缺失、基因扩增等。共有28例样本发生了TP53点突变(56%),其基因变异发生率最高;HER2扩增为1例(2%),HER2突变为2例(4%)。胃癌基因变异数量与性别有相关性(P<0.05),与年龄、T分期、N分期、M分期、分化程度及神经脉管侵犯相关性无统计学意义(P>0.05)。结论:二代测序能够为胃癌的靶向治疗提供客观依据,但获益人群比例低,卫生经济学价值不高。Objective:To investigate the genetic variations in the tumor specimens from gastric cancer patients in Wuxi area and the correlation with clinical pathological information.Methods:The second-generation sequencing method was used to detect the gene variation in 50 cases of gastric cancers,and the clinicopathological data in this group of patients were collected to analyze the correlation between the gene variation and age,gender,tumor differentiation,staging and neurovascular invasion.Finally,the value of second-generation sequencing in guiding treatment of gastric cancer was evaluated based on the medical records maintained during the follow-up of the patients.Results:In the 50 sequenced samples,438 mutations of 203 genes were detected,including point mutation,deletion and gene amplification.A total of 28 samples had TP53 point mutation,which was the highest genetic variation,accounting for 56%.HER2 was amplified in 1 case(2%),and HER2 was mutated in another 2(4%).The number of gene variants in gastric cancer was significantly correlated with gender(P<0.05),yet not correlated with age,T stage,N stage,M stage,differentiation and nerve invasion or vascular tumor thrombus(P>0.05).Conclusion:Although the second-generation sequencing can provide objective evidence for targeted therapy in gastric patients,yet the proportion of beneficiaries is low,suggesting that the health economic value is poor.

关 键 词：胃癌 二代测序 基因变异 相关分析 TP53基因 

分 类 号：R365[医药卫生—病理学] R735.2[医药卫生—基础医学]