津巴布韦管理疑似林奇综合征妇女的挑战:一份病例报告

IF 0.1 Q4 OBSTETRICS & GYNECOLOGY Southern African Journal of Gynaecological Oncology Pub Date : 2021-10-25 DOI:10.1080/20742835.2021.1991100
Kotti-Emily Mukucha, Marshall T Manase, C. Muronda, J. Whittaker, B. Guzha
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引用次数: 0

摘要

林奇综合征(LS)与结直肠癌、子宫内膜癌和多发性结肠外癌的遗传易感性有关。终生患子宫内膜癌和卵巢癌的风险分别为40-62%和4-12%。该病例为一名56岁女性,有结直肠癌癌症病史,后来发展为子宫内膜癌。肿瘤免疫组织化学显示微卫星不稳定性(MSI)高,这在90%的LS相关癌中观察到。津巴布韦无法进行种系分子检测来确认诊断结果。她的病例与津巴布韦疑似LS患者的管理困难一起进行了讨论。
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Challenges managing women with suspected Lynch Syndrome in Zimbabwe: a case report
Lynch Syndrome (LS) is associated with a genetic predisposition to colorectal, endometrial and multiple extracolonic cancers. The lifetime risk of developing endometrial and ovarian cancers is 40–62% and 4–12% respectively. The case is presented of a 56-year-old woman with a prior history of colorectal cancer who later developed endometrial carcinoma. Tumour immunohistochemistry showed microsatellite instability (MSI)-high, which is observed in 90% of LS-associated carcinomas. Germline molecular testing to confirm the diagnosis is not available in Zimbabwe. Her case is discussed together with the difficulties associated with the management of patients in Zimbabwe suspected to have LS.
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