免疫组织化学在遗传性结直肠癌筛查中的应用：异常结果该如何处理。

Immunohistochemistry in screening for heritable colorectal cancer: what to do with an abnormal result.

作者信息

Paredes Steven R, Chan Charles, Rickard Matthew J F X

机构信息

Discipline of Surgery, School of Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.

Concord Clinical School, School of Medicine, The University of Sydney, Sydney, New South Wales, Australia.

出版信息

ANZ J Surg. 2020 May;90(5):702-707. doi: 10.1111/ans.15586. Epub 2019 Dec 11.

DOI:10.1111/ans.15586

PMID:31828933

Abstract

Recent developments in our understanding of molecular genetics have transformed screening and diagnostic practices for Lynch syndrome. The current standard involves universal tumour analysis of resected colorectal cancer (and ideally polypectomy) specimens using immunohistochemistry and molecular techniques. Patients with abnormal immunohistochemical findings are subsequently referred for definitive mutational testing. This review relates the molecular pathogenesis of Lynch syndrome to current immunohistochemistry-based screening strategies and discusses the interpretation and clinical implications of screening results.

摘要

我们对分子遗传学认识的最新进展已经改变了林奇综合征的筛查和诊断方法。目前的标准是使用免疫组织化学和分子技术对切除的结直肠癌标本（理想情况下是息肉切除术标本）进行全面肿瘤分析。免疫组织化学结果异常的患者随后会接受确定性的突变检测。本综述将林奇综合征的分子发病机制与当前基于免疫组织化学的筛查策略相关联，并讨论筛查结果的解读及其临床意义。