A novel heterozygous mutation in the Birt-Hogg-Dubé Syndrome.

Abstract:

OBJETIVE:Our aim is to present a novel mutation of the Birt-Hogg-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.V400I 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.

journal_name

Arch Esp Urol

authors

Gómez Rivas J,Carrión DM,Alonso Y Gregorio S,Álvarez-Maestro M,Tabernero Gómez Á,Cisneros Ledo J

subject

Has Abstract

pub_date

2017-09-01 00:00:00

pages

675-678

issue

7

eissn

0004-0614

issn

1576-8260

journal_volume

70

pub_type

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