Carneiro F, Oliveira C, Suriano G, Seruca R
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal.
J Clin Pathol. 2008 Jan;61(1):25-30. doi: 10.1136/jcp.2006.043679. Epub 2007 May 18.
Gastric cancer is one of the major causes of cancer-related death worldwide. Familial clustering is observed in about 10% of cases; 1-3% of cases are hereditary. In the latter group, a syndrome which has been well characterised is hereditary diffuse gastric cancer; this is specifically associated with CDH1 (E-cadherin) germline mutations in about 30% of families. In this article, the state of the art of familial gastric cancer regarding the clinical, molecular and pathology features is reviewed, as well as the practical aspects for a correct diagnosis and clinical management.
胃癌是全球癌症相关死亡的主要原因之一。约10%的病例存在家族聚集现象；1-3%的病例为遗传性。在后一组病例中，一种已经得到充分表征的综合征是遗传性弥漫性胃癌；在约30%的家族中，这与CDH1（E-钙黏蛋白）种系突变特别相关。本文综述了家族性胃癌在临床、分子和病理特征方面的最新情况，以及正确诊断和临床管理的实际问题。
