Pai Rish K, Pai Reetesh K
*Department of Laboratory Medicine and Pathology, Mayo Clinic, Scottsdale, AZ †Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA.
Am J Surg Pathol. 2016 Apr;40(4):e17-34. doi: 10.1097/PAS.0000000000000620.
Lynch syndrome accounts for roughly 1 of every 35 patients with colorectal carcinoma, making it the most common hereditary form of colorectal carcinoma. Identifying patients at risk for Lynch syndrome is essential, as these patients can develop additional Lynch syndrome-related tumors, and patients and their relatives benefit from genetic counseling. The hallmark of Lynch syndrome-associated neoplasms is DNA mismatch repair protein deficiency. In most instances, the pathologist is the first to identify patients at risk for Lynch syndrome and is tasked with communicating these results to treating clinicians and genetics counselors. This review will attempt to provide the tools for pathologists to identify patients at risk for Lynch syndrome through evaluation of tumors of the gastrointestinal tract and provide up-to-date knowledge on evaluating mismatch repair protein deficiency in tumors of the gastrointestinal tract.
林奇综合征约占每35例结直肠癌患者中的1例，是结直肠癌最常见的遗传形式。识别有林奇综合征风险的患者至关重要，因为这些患者可能会发生其他与林奇综合征相关的肿瘤，而且患者及其亲属能从遗传咨询中受益。林奇综合征相关肿瘤的标志是DNA错配修复蛋白缺陷。在大多数情况下，病理学家是最先识别出有林奇综合征风险的患者的人，并负责将这些结果告知治疗临床医生和遗传咨询师。本综述将尝试为病理学家提供通过评估胃肠道肿瘤来识别有林奇综合征风险患者的工具，并提供有关评估胃肠道肿瘤中错配修复蛋白缺陷的最新知识。
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