Trial Information

The Birt Hogg-Dube Syndrome: Identification of the Disease Gene and Characterization of the Predisposition of Renal Cancer

Background

- BHD is a rare, autosomal dominantly inherited disorder which confers susceptibility to
develop multifocal, bilateral renal cancer, spontaneous pneumothorax and
fibrofolliculomas.

- BHD is caused by mutations in the BHD gene located on Chromosome17p11.2.

- Defining the genetic and biochemical pathways leading to renal tumorigenesis in BHD may
lead to the development of new molecularly targeted drugs.

Objectives

- To define the types and characteristics (including patterns of growth) of renal cancer
associated with BHD.

- To determine the risk of renal cancer, lung cysts and fibrofollicullomas in patients
with BHD.

- To define the natural history of BHD related renal tumors.

- To determine if other genes contribute to BHD.

- Identify genotype / phenotype correlations.

Eligibility

- Patients with histologically confirmed fibrofolliculomas.

- Patients with clinical evidence of multiple skin papules consistent with
fibrofolliculomas, and a family history of spontaneous pneumothorax or kidney cancer.

- A relative of a patient with a confirmed diagnosis of BHD.

- Patients with a known germline BHD mutation.

Design

- These rare families will be recruited to genetically confirm diagnosis, determine size
and location of renal tumors, size at presentation, growth rate and metastatic
potential of renal tumors.

- Genetic testing will be offered to gain appreciation of the effect of mutations the BHD
gene and to assess the relative activity of various germline and somatic mutations.

- We will determine if there is a relationship between mutation and disease phenotype.