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


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Open (Enrolling)
Both
Syndrome

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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.

Inclusion Criteria


- INCLUSION CRITERIA:

Patients with known or suspected Birt Hogg Dube Syndrome and their family members of any
age will be recruited from the dermatology, urology, oncology, and genetics communities
worldwide.

Patients with at least one histologically confirmed fibrofolliculomas; or

Patients with clinical evidence of multiple skin papules (without fibrofolliculoma biopsy
confirmation) and a personal or family history of spontaneous pneumothorax / or kidney
cancer; or

Patients with spontaneous pneumothorax and skin papules or kidney cancer and a positive
family history of spontaneous pneumothorax, skin papules or kidney cancer; or

A relative of a patient with a confirmed diagnosis of BHD, or

Renal tumor histology consistent with BHD, including, but not limited to those suggestive
of chromophobe, oncocytic neoplasm oroncocytoma.

EXCLUSION CRITERIA:

Persons unable to give informed consent.

Type of Study:

Observational

Study Design:

N/A

Principal Investigator

W. Marston Linehan, M.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

National Cancer Institute (NCI)

Authority:

United States: Federal Government

Study ID:

020159

NCT ID:

NCT00033137

Start Date:

April 2002

Completion Date:

Related Keywords:

  • Syndrome
  • Pneumothorax
  • Kidney
  • Fibrofolliculoma
  • BHD
  • Neoplasms
  • Kidney Cancer
  • Birt Hogg Dube Syndrome
  • Skin Papules
  • Kidney Neoplasms
  • Disease Susceptibility
  • Birt-Hogg-Dube Syndrome

Name

Location

National Institutes of Health Clinical Center, 9000 Rockville PikeBethesda, Maryland  20892