Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland.
JAMA Surg. 2021 Apr 1;156(4):387-392. doi: 10.1001/jamasurg.2020.6155.
Inherited variants in the tumor suppressor gene CDH1 are associated with an increased risk of gastric and breast cancers. This review aims to address the most current topics in management of the hereditary diffuse gastric cancer syndrome attributed to CDH1.
Consensus management guidelines have broadened genetic testing criteria for CDH1. Prophylactic total gastrectomy is recommended for any pathogenic or likely pathogenic CDH1 variant carrier starting at the age of 20 years. Annual surveillance endoscopy is recommended to those who defer prophylactic total gastrectomy. Women with a CDH1 variant should initiate magnetic resonance imaging breast surveillance starting at age 30 years. Further research is needed to understand the pathogenesis of early-stage gastric cancers (T1a), which are pathognomonic of hereditary diffuse gastric cancer syndrome, that lead to advanced gastric cancer to develop both treatment and prevention strategies for this patient population.
The heritable CDH1 gene mutation is of importance to today's surgeons because it is associated with a substantial increased risk of developing both gastric and breast cancers. Management of this cancer syndrome currently uses prophylactic surgery and enhanced cancer surveillance strategies.
肿瘤抑制基因 CDH1 的遗传变异与胃癌和乳腺癌的风险增加有关。本综述旨在探讨与 CDH1 相关的遗传性弥漫性胃癌综合征的管理中当前最热门的话题。
共识管理指南拓宽了 CDH1 的基因检测标准。建议从 20 岁开始，对任何致病性或可能致病性的 CDH1 变异携带者进行预防性全胃切除术。对于那些选择不进行预防性全胃切除术的人，建议每年进行内镜监测。携带 CDH1 变异的女性应从 30 岁开始进行磁共振乳腺监测。需要进一步研究以了解遗传性弥漫性胃癌综合征特有的早期胃癌（T1a）的发病机制，这导致了晚期胃癌的发生，为这一患者群体制定治疗和预防策略。
可遗传的 CDH1 基因突变对当今的外科医生很重要，因为它与胃癌和乳腺癌的风险显著增加有关。这种癌症综合征的管理目前采用预防性手术和增强的癌症监测策略。
