遗传性胃肠肿瘤研究现状

Current status of hereditary gastrointestinal neoplasms

胃癌和结直肠癌是消化道常见的恶性肿瘤，其中分别有1%-3%胃癌和5%-15%结直肠癌是由胚系基因突变引起、具有明确遗传性的胃肠肿瘤。遗传性胃癌包括遗传性弥漫型胃癌（HDGC）和遗传性肠型胃癌（HIGC）。CDH1基因突变是引发HDGC的主要原因，建议HDGC患者家系一级和二级亲属进行CDH1基因突变检测，每年行内镜检查，接受预防性全胃切除手术。遗传性结直肠癌包括遗传性非息肉病性结直肠癌（HNPCC，又称Lynch综合征）和家族性腺瘤性息肉病（FAP）。胚系的MMR基因突变检测是Lynch综合征诊断的金标准，建议Lynch综合征患者每年行内镜检查，并根据个体情况选择标准肿瘤根治手术或全结直肠切除。FAP是由于APC基因突变所致，建议每1-2年行内镜检查，持续终生，当有大量腺瘤发生时应考虑手术切除。促进遗传性胃肠肿瘤研究的关键是遵循规范的遗传性胃肠肿瘤诊治指南、构建完整的遗传性胃肠肿瘤家系的临床和基因信息库；而二代基因测序技术为阐明遗传性胃肠肿瘤发病机制提供了有利的研究工具。

Gastric cancer and colorectal cancer are two common malignant tumors in digestive tract. 1% to 3% of gastric cancer and 5% to 15% of colorectal cancer are definitely hereditary cancer caused by germline gene mutation. Hereditary gastric cancer includes hereditary diffuse gastric cancer （HDGC） and hereditary intestinal gastric cancer （HIGC）. CDH1 gene mutation is the main reason to cause HDGC, so the first degree and the second degree family members of HDGC patients are recommended to receive CDH1 mutation detection, endoscopic examination every year and undergo preventive total gastrectomy. Hereditary colorectal cancer includes hereditary nonpolyposis colorectal cancer （HNPCC, or Lynch syndrome） and familial adenomatous polyposis （FAP）. Germline MMR gene mutation detection is the golden standard of the diagnosis of Lynch syndrome. Family members of Lynch syndrome patients are recommended to receive endoscopic examination every year and undergo standard cancer radical operation or total colorectal resection based on individual conditions. FAP is caused by APC gene mutation, so FAP patients are recommended to receive endoscopic examination once or twice every year through their lifetime, while a lot of adenoma occur, resection should be considered. The promotion key of hereditary gastrointestinal neoplasms research is to follow the standard diagnosis and treatment guideline for hereditary gastrointestinal neoplasms and build the clinical and gene information bank of hereditary gastrointestinal neoplasms. The second generation sequencing technique provides favorable research stools in elucidating pathogenesis mechanism of hereditary gastrointestinal neoplasms.