四川大学学报（医学版）2026，Vol.57Issue(2)：427-434,8.DOI:10.12182/20260360602
二代测序技术检测胃癌患者基因突变及其临床病理特征分析
Next-Generation Sequencing-Based Detection of Gene Mutations and Its Association With Clinicopathological Features in Gastric Cancer
摘要
Abstract
Objective To analyze the gene mutation profile of Chinese patients with gastric cancer and to explore its correlations with clinicopathological characteristics and prognosis.Methods Fifty-five patients with gastric cancer were enrolled.Next-generation sequencing was performed to detect mutations in cancer-related genes,microsatellite instability,and tumor mutational burden.The associations of high-frequency mutated genes with clinicopathological features and progression-free survival(PFS)were analyzed.Key findings were validated and ethnic heterogeneity was assessed using The Cancer Genome Atlas stomach adenocarcinoma cohort(n=436).Results Somatic mutations were identified in 85.45%(47/55)of patients.The most frequently mutated genes were TP53(29.09%),ARID1A(16.36%),CDH1(14.55%),LRP1B(14.55%),and PIK3CA(12.73%).TP53 mutations were associated with T4 stage(P=0.028)and diffuse-type gastric cancer(P=0.008).CDH1 mutations were enriched in signet-ring cell carcinoma(P=0.012)and poorly differentiated tumors(P=0.006).Pathogenic germline mutations were identified in 20%(11/55)of patients.Univariate survival analysis revealed that CDH1 mutation was an independent poor prognostic factor for PFS(hazard ratio=3.110,95%confidence interval:3.370-20.000).Validation in The Cancer Genome Atlas cohort confirmed that the poor prognostic effect of CDH1 mutation was present only in the Asian subgroup(hazard ratio=5.00,95%confidence interval:2.01-12.43),demonstrating significant ethnic heterogeneity.Conclusion Chinese patients with gastric cancer exhibit a distinct gene mutation profile,and key gene mutations are closely associated with tumor aggressiveness.This multi-cohort validation study indicates ethnic differences in the prognostic value of genes such as CDH1,highlighting the importance of precision molecular classification in the Chinese population.关键词
胃癌/二代测序/基因突变/预后/精准医疗Key words
Stomach neoplasms/Next-generation sequencing/Gene mutation/Prognosis/Precision medicine引用本文复制引用
钟慧钰,刘堂喻亨,白玲,李晋,宋梦媛,周娟,陈豪..二代测序技术检测胃癌患者基因突变及其临床病理特征分析[J].四川大学学报（医学版）,2026,57(2):427-434,8.基金项目
This study was supported by the National Natural Science Foundation of China(No.82472355,No.82302623). 国家自然科学基金(No.82472355、No.82302623)资助 （No.82472355,No.82302623）
