[遗传性胃癌：2020年病理学家面临的挑战]

[Hereditary gastric cancer: Challenges for the pathologist in 2020].

作者信息

Renaud Florence, Svrcek Magali

机构信息

Sorbonne université, Inserm, unité Mixte de Recherche Scientifique 938, SIRIC CURAMUS, centre de recherche Saint-Antoine, équipe instabilité des microsatellites et cancer, équipe labellisée par la Ligue Nationale contre le cancer, 75012 Paris, France; Service d'anatomie et cytologie pathologiques, hôpital Saint-Antoine, AP-HP, 184, rue du Faubourg-Saint-Antoine, 75571 Paris cedex 12, France.

出版信息

Ann Pathol. 2020 Apr;40(2):95-104. doi: 10.1016/j.annpat.2020.02.007. Epub 2020 Mar 5.

DOI:10.1016/j.annpat.2020.02.007

PMID:32147190

Abstract

Gastric cancer is the third most common cancer worldwide. The majority of gastric cancers are sporadic but familial clustering is seen in more than 10% of cases. This manuscript is divided into two parts. The first part is dedicated to the non-syndromic hereditary gastric cancer, particularly the hereditary diffuse gastric cancer (HDGC) and other gastric polyposes including the recently described GAPPS (Gastric adenocarcinoma and proximal polyposis of the stomach). The second part concerns the syndromic gastric cancer, namely the HNPCC syndrome (Hereditary Non Polyposis Colorectal Cancer) occurring as part of a genetic predisposition syndrome to cancer. Recent advances in oncogenetics and next generation sequencing technology have enabled the identification of new entities. This enhancement in knowledge regarding inherited syndromes predisposing to gastric cancer has consequently improved the management of patients and their families. In this context, pathologists play a major role in identifying particular morphologic entities prompting genetic investigation. The aim of this manuscript is to provide an update on the current knowledge about hereditary gastric cancer.

摘要

胃癌是全球第三大常见癌症。大多数胃癌是散发性的，但超过10%的病例存在家族聚集现象。本文分为两部分。第一部分致力于非综合征性遗传性胃癌，特别是遗传性弥漫性胃癌（HDGC）和其他胃息肉病，包括最近描述的GAPPS（胃腺癌和胃近端息肉病）。第二部分涉及综合征性胃癌，即作为癌症遗传易感性综合征一部分出现的遗传性非息肉病性结直肠癌（HNPCC）综合征。肿瘤遗传学和下一代测序技术的最新进展使得能够识别新的实体。因此，关于易患胃癌的遗传综合征的知识的增加改善了对患者及其家庭的管理。在这种背景下，病理学家在识别促使进行基因检测的特定形态学实体方面发挥着主要作用。本文的目的是提供关于遗传性胃癌当前知识的最新情况。