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遗传性胃肠道癌及其前驱病变:基因检测算法

Hereditary gastrointestinal carcinomas and their precursors: An algorithm for genetic testing.

作者信息

Spoto Clothaire P E, Gullo Irene, Carneiro Fatima, Montgomery Elizabeth A, Brosens Lodewijk A A

机构信息

Department of Pathology, University Medical Center Utrecht, Utrecht (UMCU), The Netherlands.

Departments of Pathology, Centro Hospitalar São João/Faculty of Medicine of Porto University and Institute for Research and Innovation in Health/Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal.

出版信息

Semin Diagn Pathol. 2018 May;35(3):170-183. doi: 10.1053/j.semdp.2018.01.004. Epub 2018 Jan 31.

Abstract

Recognition of hereditary forms of gastrointestinal cancer is of great importance for patients and their families and pathologists play a crucial role in this. This review recapitulates the clinical, pathological and molecular aspects of Hereditary Diffuse Gastric Cancer and Gastric Adenocarcinoma and Proximal Polyposis of the Stomach, as well as hereditary colorectal cancer syndromes such as Lynch syndrome and gastrointestinal polyposis syndromes (including Familial Adenomatous Polyposis, Peutz-Jeghers syndrome and Juvenile Polyposis syndrome). Histopathological clues to recognize hereditary forms of gastrointestinal cancer and possible ancillary studies that can support an underlying syndrome and guide genetic testing are discussed.

摘要

识别遗传性胃肠道癌症形式对患者及其家人非常重要,病理学家在其中起着关键作用。本综述概述了遗传性弥漫性胃癌、胃腺癌和胃近端息肉病的临床、病理和分子方面,以及遗传性结直肠癌综合征,如林奇综合征和胃肠道息肉病综合征(包括家族性腺瘤性息肉病、黑斑息肉综合征和幼年性息肉病综合征)。讨论了识别遗传性胃肠道癌症形式的组织病理学线索以及可能支持潜在综合征并指导基因检测的辅助研究。

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