van der Post Rachel S, Carneiro Fátima
Department of Pathology, Radboud University Medical Centre, Postbox 9101, Nijmegen 6500 HB, The Netherlands.
Department of Pathology, Centro Hospitalar de São João, Porto, Portugal; Department of Pathology, Faculty of Medicine of the University of Porto (FMUP), Alameda Professor Hernâni Monteiro, Porto 4200-319, Portugal; Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Rua Júlio Amaral de Carvalho, 45, Porto 4200-135, Portugal; Institute for Research Innovation in Health (i3S), Rua Júlio Amaral de Carvalho, 45, Porto 4200-135, Portugal.
Surg Pathol Clin. 2017 Dec;10(4):931-945. doi: 10.1016/j.path.2017.07.011.
Hereditary gastric cancer is a relatively rare disease with specific clinical and histopathologic characteristics. Hereditary gastric cancer of the diffuse type is predominantly caused by germline mutations in CDH1. The inherited cause of familial intestinal gastric cancer is unknown. Gastric adenocarcinoma and proximal polyposis of the stomach is a hereditary cancer syndrome caused by germline mutations in promoter 1B of APC. Other well-defined cancer syndromes, such as Lynch, Li-Fraumeni, and hereditary breast or ovarian cancer syndromes, are associated with increased risk of gastric cancer. This article reviews important histopathologic features and emerging concepts regarding gastric carcinogenesis in these syndromes.
遗传性胃癌是一种相对罕见的疾病，具有特定的临床和组织病理学特征。弥漫型遗传性胃癌主要由CDH1基因的种系突变引起。家族性肠型胃癌的遗传病因尚不清楚。胃腺癌和胃近端息肉病是一种由APC基因启动子1B的种系突变引起的遗传性癌症综合征。其他明确的癌症综合征，如林奇综合征、李-佛美尼综合征以及遗传性乳腺癌或卵巢癌综合征，都与胃癌风险增加有关。本文综述了这些综合征中胃癌发生的重要组织病理学特征和新出现的概念。
