Renal cancer and pneumothorax risk in Birt–Hogg–Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families
Authors:
Open Access
- 6 December 2011
- journal article
- research article
- Published by Springer Nature in British Journal of Cancer
- Vol. 105 (12) , 1912-1919
Abstract
Birt–Hogg–Dubé (BHD) syndrome is an autosomal dominant condition caused by germline FLCN mutations, and characterised by fibrofolliculomas, pneumothorax and renal cancer. The renal cancer risk, cancer phenotype and pneumothorax risk of BHD have not yet been fully clarified. The main focus of this study was to assess the risk of renal cancer, the histological subtypes of renal tumours and the pneumothorax risk in BHD. In this study we present the clinical data of 115 FLCN mutation carriers from 35 BHD families. Among 14 FLCN mutation carriers who developed renal cancer 7 were FLCN mutations was familial multiple discoid fibromas. We confirmed a high yield of FLCN mutations in clinically defined BHD families, we found a substantially increased lifetime risk of renal cancer of 16% for FLCN mutation carriers. The tumours were metastatic in 5 out of 14 patients and tumour histology was not specific for BHD. We found a pneumothorax risk of 29%. We discuss the implications of our findings for diagnosis and management of BHD.Keywords
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