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Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.

Abstract：

BACKGROUND: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. METHODS:In this study we present the clinical data of 115 FLCN mutation carriers from 35 BHD families. RESULTS:Among 14 FLCN mutation carriers who developed renal cancer 7 were <50 years at onset and/or had multifocal/bilateral tumours. Five symptomatic patients developed metastatic disease. Two early-stage cases were diagnosed by surveillance. The majority of tumours showed characteristics of both eosinophilic variants of clear cell and chromophobe carcinoma. The estimated penetrance for renal cancer and pneumothorax was 16% (95% minimal confidence interval: 6-26%) and 29% (95% minimal confidence interval: 9-49%) at 70 years of age, respectively. The most frequent diagnosis in families without identified FLCN mutations was familial multiple discoid fibromas. CONCLUSION: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.

journal_name

Br J Cancer

journal_title

British journal of cancer

authors

Houweling AC,Gijezen LM,Jonker MA,van Doorn MB,Oldenburg RA,van Spaendonck-Zwarts KY,Leter EM,van Os TA,van Grieken NC,Jaspars EH,de Jong MM,Bongers EM,Johannesma PC,Postmus PE,van Moorselaar RJ,van Waesberghe JH,Starink

doi

10.1038/bjc.2011.463

subject

Has Abstract

pub_date

2011-12-06 00:00:00

pages

1912-9

issue

eissn

0007-0920

issn

1532-1827

pii

bjc2011463

journal_volume

105

pub_type

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Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.