Birt–Hogg–Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomasReportar como inadecuado

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Familial Cancer

, Volume 15, Issue 1, pp 127–132

First Online: 05 September 2015DOI: 10.1007-s10689-015-9837-5

Cite this article as: Näf, E., Laubscher, D., Hopfer, H. et al. Familial Cancer 2016 15: 127. doi:10.1007-s10689-015-9837-5


Germline mutation of the FLCN gene causes Birt–Hogg–Dubé syndrome BHD, a rare autosomal dominant condition characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal tumours. We identified a hitherto unreported pathogenic FLCN frameshift deletion c.563delT p.Phe188Serfs*35 in a family of a 46-year-old woman presented with macrohematuria due to bilateral chromophobe renal carcinomas. A heritable renal cancer was suspected due to the bilaterality of the tumour and as the father of this woman had suffered from renal cancer. Initially, however, BHD was overlooked by the medical team despite the highly suggestive clinical presentation. We assume that BHD is underdiagnosed, at least partially, due to low awareness of this variable condition and to insufficient use of appropriate genetic testing. Our study indicates that BHD and FLCN testing should be routinely considered in patients with positive family or personal history of renal tumours. In addition, we demonstrate how patients and their families can play a driving role in initiating genetic diagnosis, presymptomatic testing of at-risk relatives, targeted disease management, and genetic counselling of rare diseases such as BHD.

KeywordsBirt–Hogg–Dubé syndrome BHD Folliculin FLCN Haploinsufficiency Inherited kidney cancer  Download fulltext PDF

Autor: Ernst Näf - Dominik Laubscher - Helmut Hopfer - Markus Streit - Gabor Matyas


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