林奇综合征是一种常染色体显性遗传性疾病，由 DNA 错配修复基因的种系致病性变异引起，导致多器官癌症。一些指南建议每年进行经阴道超声检查和子宫内膜活检用于林奇综合征患者的子宫内膜癌监测；然而，证据有限。在此，我们介绍一名患有子宫内膜癌的 51 岁女性的病例，她在林奇综合征监测发现的早期阶段接受了机器人辅助腹腔镜简单子宫切除术。患者为一名 51 岁零孕女性，无任何病史或症状。她的姐姐患有膀胱癌、乳腺癌、直肠癌和子宫内膜癌，并通过遗传性癌症小组测试 (VistaSeq®) 被诊断为林奇综合征。在妇科监测期间，患者的子宫内膜细胞学分类为Papanicolaou III级。于是，她接受了宫腔镜下子宫内膜刮除术，诊断为子宫内膜不典型增生。最终病理诊断为子宫内膜癌（子宫内膜样癌，1 级），1A 期，进行机器人辅助子宫切除术。她已经 12 个多月没有生病了。由于遗传医学的进步，遗传性癌症的预防和治疗手术正在增加。为了实现林奇综合征相关癌症的早期诊断和治疗，应更广泛地认识到林奇综合征监测的重要性。© 2023 作者。由巴塞尔 S. Karger AG 出版。

Lynch syndrome is an autosomal dominant inherited disorder caused by a germline pathogenic variant in DNA mismatch repair genes, resulting in multi-organ cancer. Annual transvaginal ultrasonography and endometrial biopsy are recommended for endometrial cancer surveillance in patients with Lynch syndrome in several guidelines; however, evidence is limited. Here, we present the case of a 51-year-old woman with endometrial cancer who underwent robot-assisted laparoscopic simple hysterectomy at an early stage detected by Lynch syndrome surveillance. The patient was a 51-year-old gravida zero woman without any medical history or symptoms. Her sister suffered from bladder, breast, rectal, and endometrial cancer and was diagnosed with Lynch syndrome using a hereditary cancer panel test (VistaSeq®). During gynecologic surveillance, the patient's endometrial cytology was classified as Papanicolaou class III. Therefore, she underwent endometrial curettage with hysteroscopy and was diagnosed with atypical endometrial hyperplasia. Robot-assisted hysterectomy was performed with a final pathological diagnosis of endometrial cancer (endometrioid carcinoma, Grade 1), stage 1A. She has remained disease-free for more than 12 months. Owing to advances in genetic medicine, prophylactic and therapeutic surgeries for hereditary cancers are increasing. To achieve an early diagnosis and treatment of Lynch syndrome-associated cancers, the importance of Lynch syndrome surveillance should be more widely recognized.© 2023 The Author(s). Published by S. Karger AG, Basel.