作者：周学付1,2，陈国星1，彭晓飞1

单位：1.广州医科大学附属第六医院 胃肠外科，广东 广州 511518； 2.中山大学附属第七医院 胃肠外科，广东 深圳 518017

Authors:  ZHOU Xuefu1,2，CHEN Guoxing1，PENG Xiaofei1

Unit:  1.Gastrointestinal surgical department, the Sixth Affiliated Hospital of Guangzhou Medical University, Guangzhou 511518, Guangdong, China;  2.The Seventh Affiliated Hospital, Sun Yat-sen University, Shenzhen 518017, Guangdong, China

摘要：

目的  通过5例临床标准遗传性弥漫型胃癌综合征(HDGC)病人外周血细胞CDH1基因测序,探讨粤北地区HDGC形成与CDH1种系突变可能的关系。方法  2010年6月2016年12月期间,我院胃肠外科手术治疗胃癌病人425例,通过临床和病理资料分析,筛选出符合国际胃癌联盟制定的临床标准HDGC病例5例。采集病人外周血提取DNA,对CDH1基因全部外显子编码区进行测序。结果  5例病人外周血细胞CDH1基因外显子测序未检测到明确致病性突变。结论  粤北地区HDGC形成与CDH1种系突变关系仍不清楚,有待更多大样本检测的进一步探究。

关键词： 遗传性弥漫型胃癌; 种系突变; E-钙粘素蛋白基因; CDH1

Abstract：

Objective  To explore the possible relationship between hereditary diffuse gastric cancer syndrome (HDGC) and CDH1 germline mutations by peripheral blood cell CDH1 gene sequencing of 5 patients conforming to the clinical diagnosis of HDGC from North region in Guangdong. Methods  425 gastric cancer patients were operated in our department from June 2010 to December 2016. Clinical features, especially the family history and pathology, of 5 patients conformed to HDGC according to the clinical criteria set by International Gastric Cancer Linkage Consortium. No less than 2 ml peripheral blood was extracted from 5 patients, with DNA extracted and all exon code areas of CDH1 gene subsequantly sequenced. Results  No any pathogenic mutations of CDH1 exon code areas were detected in all patients. Conclusions  The relationship between CDH1 germline mutations and HDGC in North region of Guangdong is still unclear, with more large-sample sequences required to detect the local feature.

Key Words:  Hereditary diffuse gastric cancer; Germline mutation; E-cadherin; CDH1