4th Department of Surgery, Athens University, Medical School, Attikon University Hospital, 1 Rimini str., 12462, Chaidari, Athens, Greece.
Surg Oncol. 2011 Dec;20(4):e223-6. doi: 10.1016/j.suronc.2011.08.001. Epub 2011 Aug 26.
Hereditary diffuse gastric cancer (HDGC) is characterized as an autosomal dominant cancer susceptibility syndrome largely attributable to germline mutations and deletions in the gene encoding E-cadherin, CDH1. Mutation carriers have a more than 70% lifetime risk of developing DGC and an elevated probability of lobular breast cancer. The aim of this review was to evaluate the results of surgical treatment for HDGC with special reference to the extent of its histological spread and to analyze the recent literature in order to provide an update on the current concepts of prophylactic gastrectomy for disease prevention. Nevertheless, it is not clear that our current knowledge of molecular and genetic diagnostics calls for the addition of HDGC to the roster of malignant familial syndromes in which early counseling and preventive surgical intervention should become the standard of care. Endoscopic screening cannot be recommended because the stomach appears normal and biopsies often fail to demonstrate signet ring cell adenocarcinoma. Prophylactic gastrectomy has provided many members of affected families with relief from GC with minimal implications.
遗传性弥漫性胃癌（HDGC）的特征是一种常染色体显性癌症易感性综合征，主要归因于编码 E-钙黏蛋白（CDH1）的基因突变和缺失。突变携带者一生中患 DGC 的风险超过 70%，并且患小叶性乳腺癌的概率增加。本综述的目的是评估 HDGC 手术治疗的结果，特别参考其组织学扩散程度，并分析最近的文献，以提供预防性胃切除术预防疾病的最新概念。然而，目前尚不清楚我们对分子和遗传诊断的了解是否需要将 HDGC 添加到恶性家族综合征的名单中，在这些综合征中，早期咨询和预防性手术干预应该成为护理标准。不能推荐内镜筛查，因为胃看起来正常，活检通常未能显示印戒细胞腺癌。预防性胃切除术为许多受影响家庭的成员提供了 GC 的缓解，其影响最小。
