Metastatic Clear Cell-Renal Cell Carcinoma in Birt-Hogg-Dube Syndrome

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.