二代基因测序技术在胃癌病理临床分析中的应用价值  

Clinical value of next-generation sequencing in the pathological and clinical analysis of gastric cancer

作　　者：聂尊珍 郭英 NIE Zunzhen;GUO Ying(Department of Pathology,Xi’an Daxing Hospital,Xi’an 710082,China)

机构地区：[1]西安大兴医院病理科,西安710082

出　　处：《山西医科大学学报》2022年第4期396-402,共7页Journal of Shanxi Medical University

摘　　要：目的探索二代基因测序技术(next-generation sequencing,NGS)在胃癌病理临床分析中的应用价值。方法选取西安大兴医院病理科2019—2020年术前均未经治疗的胃腺癌样本15例,分别进行苏木精-伊红染色(hematoxylin-eosin staining,HE)、免疫组化染色、NGS检测,探索NGS在胃癌病理临床分析中的应用价值,并进行文献复习。结果免疫组化染色结果发现1例错配修复(mismatch repair,MMR)蛋白表达缺失,同时伴有原癌基因人类表皮生长因子受体2(human epidermal growth factor receptor-2,HER2)强表达,与NGS检测结果一致。NGS检测发现1例罕见的BRIP1胚系突变,同时发现高频体细胞突变亚型包括TP53(11/15,62.5%)、MUC6(4/15,26.7%)、MUC16(4/15,26.7%)、CRP1B(4/15,26.7%)、PIK3CA(3/15,20%)等,另外在具有胃癌遗传特征的3例患者中发现TP53、CDH1、CDH9、MUC6和MUC16等体细胞突变。随访15例患者,11例无病生存,4例死亡。结论二代基因测序技术能同时、高效筛查出胃癌中多种基因、多位点或不同方式的基因突变,为胃癌的临床诊疗提供实验室依据。Objective To explore the application value of next-generation sequencing(NGS)in the pathological and clinical analysis of gastric cancer.Methods A total of 15 samples of gastric adenocarcinoma untreated before surgery were obtained from the pathology department of Xi’an Daxing Hospital from 2019 to 2020.All samples were evaluated using hematoxylin eosin staining,immunohistochemical staining and NGS methods.Related studies were also reviewed.Results The results of immunohistochemical staining showed one case of the deficiency of mismatch repair(MMR)protein expression combined with the high expression of human epidermal growth factor receptor-2(HER2),which was consistent with NGS results.In addition,one case of a rare BRIP1 germline mutation was found by NGS,and the subtypes of high-frequency somatic mutation such as TP53(11/15,62.5%),MUC6(4/15,26.7%),MUC16(4/15,26.7%),CRP1B(4/15,26.7%)and PIK3CA(3/15,20%)were simultaneously observed.In three cases of hereditary gastric cancer,somatic mutations in genes such as TP53,CDH1,CDH9,MUC6 and MUC16 were detected.Of 15 followed-up patients,11 survived disease-free and 4 died.Conclusion NGS technology can simultaneously and efficiently screen multiple gene mutations at multiple sites or gene mutation in different ways in gastric cancer patients,and thus providing a laboratory basis for the clinical diagnosis and treatment of gastric cancer.

关 键 词：二代基因测序技术 遗传性胃癌 胚系突变 体细胞突变 

分 类 号：R735.2[医药卫生—肿瘤]