Ariel T. Cohen, Danae M. Hamouda, Katherine S Jerew, Thomas M. Blomquist, Firas G. Petros
{"title":"Metastatic Clear Cell-Renal Cell Carcinoma in Birt-Hogg-Dube Syndrome","authors":"Ariel T. Cohen, Danae M. Hamouda, Katherine S Jerew, Thomas M. Blomquist, Firas G. Petros","doi":"10.1097/ju9.0000000000000045","DOIUrl":null,"url":null,"abstract":"\n The Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant genodermatosis harboring a mutated gene encoding for a protein known as folliculin. BHD is associated with increased risk of renal cell carcinoma (RCC), especially chromophobe/oncocytic hybrid tumors. The mutations driving clear cell RCC (ccRCC) in BHD remain investigational. We describe a case of BHD syndrome with a metachronous metastatic ccRCC and genomic alterations.","PeriodicalId":74033,"journal":{"name":"JU open plus","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"JU open plus","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1097/ju9.0000000000000045","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1
Abstract
The Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant genodermatosis harboring a mutated gene encoding for a protein known as folliculin. BHD is associated with increased risk of renal cell carcinoma (RCC), especially chromophobe/oncocytic hybrid tumors. The mutations driving clear cell RCC (ccRCC) in BHD remain investigational. We describe a case of BHD syndrome with a metachronous metastatic ccRCC and genomic alterations.
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