Lynch syndrome is an inherited tumor syndrome caused by a pathogenic germline variant in DNA mismatch repair genes. As the leading cause of hereditary endometrial cancer, international guidelines recommend universal screening in women with endometrial cancer. However, testing for Lynch syndrome is not yet well established in clinical practice. The aim of this study was to evaluate adherence to our Lynch syndrome screening algorithm. A retrospective, single-center cohort study was conducted of all endometrial cancer patients undergoing surgical treatment at the Bern University Hospital, Switzerland, between 2017 and 2022. Adherence to immunohistochemical analysis of mismatch repair status, and, if indicated, to MLH1 promoter hypermethylation and to genetic counseling and testing was assessed. Of all 331 endometrial cancer patients, 102 (30.8%) were mismatch repair-deficient and 3 (0.9%) patients were diagnosed with Lynch syndrome. Overall screening adherence was 78.2%, with a notable improvement over the six years from 61.4% to 90.6%. A major reason for non-adherence was lack of provider recommendation for testing, with advanced patient age as a potential patient risk factor. Simplification of the algorithm through standardized reflex screening was recommended to provide optimal medical care for those affected and to allow for cascading testing of at-risk relatives.
林奇综合征是一种由DNA错配修复基因致病性胚系变异引起的遗传性肿瘤综合征。作为遗传性子宫内膜癌的首要病因，国际指南建议对所有子宫内膜癌女性患者进行普筛。然而，林奇综合征检测在临床实践中尚未得到充分实施。本研究旨在评估我院林奇综合征筛查流程的依从性。我们对2017年至2022年间在瑞士伯尔尼大学医院接受手术治疗的所有子宫内膜癌患者进行了回顾性单中心队列研究，评估了错配修复状态免疫组化检测的依从性，以及必要时MLH1启动子高甲基化检测、遗传咨询和基因检测的依从性。在全部331例子宫内膜癌患者中，102例（30.8%）存在错配修复缺陷，3例（0.9%）确诊为林奇综合征。总体筛查依从率为78.2%，六年间从61.4%显著提升至90.6%。未遵循筛查的主要原因是临床医生未推荐检测，而高龄可能是患者的潜在风险因素。建议通过标准化级联筛查简化流程，从而为患者提供最佳医疗服务，并对高危亲属进行级联检测。
肿瘤(癌症)患者之家