A NOVEL HETEROZYGOUS MUTATION IN THE BIRT-HOGG-DUBE SYNDROME

OBJETIVE: Our aim is to present a novel mutation of the Birt-Hogg-Dube Syndrome. METHODS: We present a case report of a 70-year-old male with three solid nodulary lesions of 4, 2.6, and 3 cm each in the right kidney, and two lesions of 1.5 and 1.3 cm in the left kidney. RESULTS: Needle biopsy was performed. The pathological analysis of right kidney lesions revealed a renal tumor suggestive of chromophobe renal cell carcinoma and medullar tumor with zones that suggested oncocytosis. Genetic test results were positive for a novel heterozygous mutation c. 1 1 98G>A; p.V4001 in exon 1 1 of the FLCN gene. CONCLUSION: In patients presenting with bilateral multifocal renal tumors of oncocytic hybrid histology Bid-Hogg-Dube syndrome should be the first diagnosis in mind. The mutation found in this patient has not been previously described in the literature in the context of BHD.