Division of Gastroenterology, University of Pennsylvania, Philadelphia, Pennsylvania.
Division of Gastroenterology, University of Pennsylvania, Philadelphia, Pennsylvania.
Clin Gastroenterol Hepatol. 2020 Feb;18(2):505-508.e1. doi: 10.1016/j.cgh.2019.04.064. Epub 2019 May 8.
A total of 1%-3% of gastric cancers are related to hereditary syndromes, including hereditary diffuse gastric cancer syndrome (HDGC), which is characterized by pathogenic variants of the CDH1 gene and a high risk of lifetime incidence of both diffuse gastric cancer (DGC) and lobular breast cancer. HDGC is suspected in families with DGC or lobular breast cancer, especially when either is diagnosed before 50 years of age or when present in multiple family members. As individuals with HDGC have up to a 70% lifetime risk of DGC, prophylactic total gastrectomy is recommended. For patients who defer surgery, annual endoscopic surveillance via the Cambridge protocol is recommended, comprising biopsies of any lesions and a minimum of 30 random biopsies from the antrum, transitional zone, body, fundus, and cardia..
总计 1%-3%的胃癌与遗传性综合征有关，包括遗传性弥漫性胃癌综合征（HDGC），其特征是 CDH1 基因的致病性变异以及弥漫性胃癌（DGC）和小叶性乳腺癌终身发病的高风险。当家族中存在 DGC 或小叶性乳腺癌，特别是在 50 岁之前被诊断出或在多个家族成员中存在时，应怀疑存在 HDGC。由于 HDGC 患者一生中发生 DGC 的风险高达 70%，因此建议进行预防性全胃切除术。对于选择不手术的患者，建议通过剑桥协议进行年度内镜监测，包括对任何病变进行活检，以及从胃窦、过渡区、体部、胃底部和贲门处至少进行 30 次随机活检。
