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在一名林奇综合征女性患者中使用子宫内膜细胞学进行成功监测

Successful Surveillance Using Endometrial Cytology in a Woman With Lynch Syndrome.

作者信息

Murakami Atsushi, Nomura Hidetaka, Sugiyama Yuko, Kanao Hiroyuki

机构信息

Department of Gynecology, Cancer Institute Hospital of Japanese Foundation for Cancer Research (JFCR), Tokyo, JPN.

出版信息

Cureus. 2024 Aug 6;16(8):e66250. doi: 10.7759/cureus.66250. eCollection 2024 Aug.

Abstract

Lynch syndrome (LS) results from pathogenic variants in mismatch repair genes and is the most common hereditary cancer syndrome. Some guidelines or studies recommend restricting screening according to endometrial cancer (EC) using endometrial biopsy. The pooled sensitivity and specificity of endometrial cytology for detecting endometrial atypical hyperplasia or cancer have been reported to be as high as the pooled sensitivity and specificity of endometrial biopsy. We conduct transvaginal ultrasound and endometrial cytology in women with LS every six months as surveillance for gynecological malignancy. Through this surveillance program, we can detect early-stage EC in women with LS. Here, we report the case of a patient with stage IA EC detected by endometrial cytology and treated completely. The patient was a 47-year-old woman under surveillance for gynecological malignancy. She was diagnosed as having LS with a germline pathogenic variant in after surgery for rectal cancer. Thereafter, gynecological surveillance was started. She had regular menstruation and never experienced atypical genital bleeding. However, her cytopathological findings indicated grade 1 endometrial carcinoma. Endometrial biopsy was performed and endometrial carcinoma was confirmed pathologically. A laparoscopic modified radical hysterectomy with bilateral salpingo-oophorectomy was performed. The resected specimen was reviewed pathologically, and the tumor was finally diagnosed as grade 1 endometrioid carcinoma confined to the endometrium without lymphovascular space invasion. She has remained asymptomatic and free of cancer for five years without any adjuvant therapy. We achieved successful surveillance using endometrial cytology. Endometrial cytology could replace endometrial biopsy as a screening tool for EC.

摘要

林奇综合征(LS)由错配修复基因的致病性变异引起,是最常见的遗传性癌症综合征。一些指南或研究建议根据子宫内膜癌(EC)采用子宫内膜活检来限制筛查。据报道,子宫内膜细胞学检测子宫内膜非典型增生或癌症的综合敏感性和特异性与子宫内膜活检的综合敏感性和特异性一样高。我们每六个月对患有LS的女性进行经阴道超声和子宫内膜细胞学检查,作为妇科恶性肿瘤的监测手段。通过这个监测项目,我们可以在患有LS的女性中检测到早期EC。在此,我们报告一例通过子宫内膜细胞学检测出的IA期EC患者,并已完全治愈。该患者是一名47岁的女性,正在接受妇科恶性肿瘤监测。她在直肠癌手术后被诊断为患有LS,存在种系致病性变异。此后,开始了妇科监测。她月经规律,从未经历过非典型生殖器出血。然而,她的细胞病理学检查结果显示为1级子宫内膜癌。进行了子宫内膜活检,病理证实为子宫内膜癌。实施了腹腔镜改良根治性子宫切除术及双侧输卵管卵巢切除术。对切除标本进行了病理复查,最终诊断肿瘤为局限于子宫内膜的1级子宫内膜样癌,无淋巴管侵犯。她在未接受任何辅助治疗的情况下,五年内一直无症状且无癌症复发。我们通过子宫内膜细胞学检查成功实现了监测。子宫内膜细胞学可以替代子宫内膜活检作为EC的筛查工具。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc13/11375435/11cf41836ce4/cureus-0016-00000066250-i01.jpg

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