Kotti-Emily Mukucha, Marshall T Manase, C. Muronda, J. Whittaker, B. Guzha
{"title":"津巴布韦管理疑似林奇综合征妇女的挑战:一份病例报告","authors":"Kotti-Emily Mukucha, Marshall T Manase, C. Muronda, J. Whittaker, B. Guzha","doi":"10.1080/20742835.2021.1991100","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":41638,"journal":{"name":"Southern African Journal of Gynaecological Oncology","volume":"13 1","pages":"42 - 44"},"PeriodicalIF":0.1000,"publicationDate":"2021-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Challenges managing women with suspected Lynch Syndrome in Zimbabwe: a case report\",\"authors\":\"Kotti-Emily Mukucha, Marshall T Manase, C. Muronda, J. Whittaker, B. Guzha\",\"doi\":\"10.1080/20742835.2021.1991100\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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.\",\"PeriodicalId\":41638,\"journal\":{\"name\":\"Southern African Journal of Gynaecological Oncology\",\"volume\":\"13 1\",\"pages\":\"42 - 44\"},\"PeriodicalIF\":0.1000,\"publicationDate\":\"2021-10-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Southern African Journal of Gynaecological Oncology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1080/20742835.2021.1991100\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Southern African Journal of Gynaecological Oncology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1080/20742835.2021.1991100","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
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.