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Artículo Tomo 70, Número. 7, Septiembre 2017

Archivos Españoles de Urología

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

Authors: Juan Gómez Rivas, Diego M. Carrión, Sergio Alonso y Gregorio, Mario Álvarez-Maestro, Ángel Tabernero Gómez and Jesus Cisneros Ledo.

Arch. Esp. Urol. 2017; 70 (7): 675-678

Vol. 70, Number. 7, September 2017

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.

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