粤北地区遗传性弥漫型胃癌与CDH1种系突变关系初探

To explore the possible relationship between hereditary diffuse gastric cancer(HDGC) and CDH1 germline mutations in North region of Guangdong

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。

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.