Abstract：
Lynch syndrome (LS) is a prevalent genetic condition associated with colorectal cancer (CRC). Accurate identification of LS patients is challenging, and a universal tumor screening approach has been recommended. We present the methodology and results of universal LS screening in our hospital\'s Pathology Department. This retrospective study analyzed CRC tumors from a 5-year period (2017-2021). Immunohistochemistry was used to assess MMR protein expression, followed by BRAF V600E analysis and MLH1 promoter methylation. Statistical analysis examined associations between clinicopathologic variables MMR status and LS-suspected tumors. The study analyzed 939 colorectal carcinomas, with 8.7% exhibiting mismatch repair (MMR) deficiency, significantly lower than previous research. After applying the algorithm, 24 LS-suspected cases were identified, accounting for 2.6% of tested patients and 29.3% of MMR-deficient tumors. Our study establishes the feasibility of universal testing for all new cases of CRC in detecting individuals at risk for LS, even in the absence of clinical information. To gain a comprehensive understanding of the MMR status in our population, further investigations are warranted.
摘要：
Lynch综合征(LS)是一种与结直肠癌(CRC)相关的常见遗传病。准确识别LS患者具有挑战性，并建议采用通用的肿瘤筛查方法。我们介绍了在我院病理科进行普遍LS筛查的方法和结果。这项回顾性研究分析了5年（2017-2021年）的CRC肿瘤。免疫组织化学用于评估MMR蛋白表达，其次是BRAFV600E分析和MLH1启动子甲基化。统计分析检查了临床病理变量MMR状态和LS疑似肿瘤之间的关联。该研究分析了939例大肠癌，8.7%表现出错配修复(MMR)缺陷，明显低于以往的研究。应用算法后，确定了24例LS疑似病例，占测试患者的2.6％和MMR缺陷肿瘤的29.3％。我们的研究确立了对所有新的CRC病例进行普遍检测的可行性，以检测存在LS风险的个体。即使在缺乏临床信息的情况下。为了全面了解我们人口中的MMR状况，需要进一步调查。
