Histopathology Department, Middlemore Hospital, Auckland, New Zealand.
PathWest, QEII Medical Centre and School of Pathology and Laboratory Medicine, University of Western Australia, Perth, WA, Australia.
Pathology. 2019 Apr;51(3):233-239. doi: 10.1016/j.pathol.2018.11.014. Epub 2019 Mar 6.
Lynch syndrome is the most common hereditary form of colorectal carcinoma caused by a constitutional pathogenic mutation in a DNA mismatch repair gene. Identifying Lynch syndrome is essential to initiate intensive surveillance program for the patient and affected relatives. On behalf of the Australasian Gastrointestinal Pathology Society (AGPS), we present in this manuscript consensus guidelines for Lynch syndrome screening in patients with colorectal carcinoma. The goal of this consensus document is to provide recommendations to pathologists for diagnosis of Lynch syndrome with discussion of the benefits and limitations of each test. Universal screening for defective mismatch repair is recommended, in agreement with the recent endorsement of universal testing by the National Health and Medical Research Council in Australia and the New Zealand Ministry of Health. The value of evaluating defective mismatch repair is acknowledged not only for Lynch syndrome screening but also for therapeutic decision information in patient management. AGPS advocates appropriate government funding for the molecular tests necessary for Lynch syndrome screening (BRAF mutation, MLH1 methylation testing).
林奇综合征是由 DNA 错配修复基因中的结构性致病突变引起的最常见的结直肠癌遗传性形式。识别林奇综合征对于启动患者和受影响亲属的强化监测计划至关重要。代表澳大利亚胃肠病学病理学学会 (AGPS)，我们在此文件中提出了用于结直肠癌患者林奇综合征筛查的共识指南。本共识文件的目的是为病理学家提供诊断林奇综合征的建议，并讨论每项检测的优势和局限性。建议对缺陷性错配修复进行普遍筛查，这与澳大利亚国家健康与医学研究理事会和新西兰卫生部最近对普遍检测的认可一致。评估缺陷性错配修复的价值不仅在于林奇综合征筛查，还在于为患者管理中的治疗决策信息。AGPS 主张为林奇综合征筛查所需的分子检测（BRAF 突变、MLH1 甲基化检测）提供适当的政府资金。
