Abstract
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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