A novel heterozygous mutation in the Birt-Hogg-Dubé syndrome

Abstract:

OBJETIVE: Our aim is to present a novel mutation of the Birt-hiogg-Dubé 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. 1198G>A; p.V400l in exon 11 of the FLCN gene. CONCLUSION: In patients presenting with bilateral multifocal renal tumors of oncocytic hybrid histology, Birt-Hogg-Dubé 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.

Año de publicación:

2017

Keywords:

• renal cell carcinoma
• Laparoscopic nephron-sparing surgery
• Birt-Hogg-Dubé syndrome

Fuente:

scopus