Vânia Almeida, Luis Veloso, Paulo Teixeira, Augusta Cipriano
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引用次数: 0
摘要
林奇综合征(LS)是一种与结直肠癌(CRC)相关的常见遗传病。准确识别林奇综合征患者具有挑战性,因此建议采用普遍的肿瘤筛查方法。我们介绍了本医院病理科开展的 LS 普查的方法和结果。这项回顾性研究分析了 5 年内(2017-2021 年)的 CRC 肿瘤。采用免疫组化方法评估 MMR 蛋白表达,然后进行 BRAF V600E 分析和 MLH1 启动子甲基化分析。统计分析考察了临床病理变量MMR状态与LS疑似肿瘤之间的关联。研究分析了939例结直肠癌,其中8.7%表现出错配修复(MMR)缺陷,明显低于之前的研究。应用该算法后,发现了24例LS疑似病例,占检测患者的2.6%,占MMR缺陷肿瘤的29.3%。我们的研究证实了对所有新发 CRC 病例进行普遍检测的可行性,即使在缺乏临床信息的情况下,也能检测出 LS 风险个体。为了全面了解我国人群的MMR状况,还需要进行进一步的调查。
Universal Lynch Syndrome Screening in Colorectal Cancer: A 5-Year Experience of a Portuguese Pathology Department.
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.
期刊介绍:
Applied Immunohistochemistry & Molecular Morphology covers newly developed identification and detection technologies, and their applications in research and diagnosis for the applied immunohistochemist & molecular Morphologist.
Official Journal of the International Society for Immunohistochemisty and Molecular Morphology.