Genetic Study of Patients and Families With Birt-Hogg-Dube Syndrome

2014-08-27 03:56:00 | BioPortfolio


RATIONALE: Genetic studies may help in understanding the genetic processes involved in the development of some types of cancer.

PURPOSE: Genetic trial to study genes of patients and families who have Birt-Hogg-Dube syndrome to identify patients who are at risk of developing kidney cancer.



- Define the types and characteristics (e.g., patterns of growth) of renal cancer associated with patients and families with Birt Hogg Dube (BHD) syndrome.

- Define the risk of renal cancer and lung cysts in patients with BHD syndrome.

- Determine the incidence of germline BHD mutations in patients suspected to have this syndrome.

- Determine whether there is a genotype/phenotype correlation in these patients.

- Determine whether there is genetic heterogeneity in BHD syndrome.

OUTLINE: Over a period of 1-4 days, patients provide a detailed family history and then undergo a complete physical examination, blood collection (or buccal smears) for linkage or DNA analysis, chest and other x-rays, abdominal ultrasound, cutaneous/dermatologic assessment (photography of lesions and skin biopsy), pulmonary function tests, MRI, CT scans of the abdomen and chest, and karyotypic analysis. Patients under age 15 do not undergo CT scans (unless clinically indicated) or karyotypic analysis. Investigators also rule out VHL and MET gene mutations for patients with papillary cell or clear cell histology.

Investigators may obtain pathologic material (e.g., fixed tissue blocks) from surgeries performed at the National Institutes of Health (NIH) Clinical Center or outside institutions or from autopsy materials. These samples undergo pathologic analysis to confirm diagnosis and may be tested for genotype with polymorphic polymerase chain reaction-based markers for linkage studies or direct mutation analysis. DNA and RNA may be prepared from appropriate samples, including whole blood, skin fibroblasts, buccal scrapings containing epithelial cells, or surgical tissue. Affected patients may be hospitalized for surgical excision of tumors and procurement of tissue.

Relatives or spouses enrolled in this study primarily for linkage studies only undergo blood draw for DNA analysis.

Affected and unaffected family members who choose not to travel to the NIH Clinical Center but agree to a limited level of participation may undergo blood collection, skin biopsy, photography of skin lesions, and/or local clinical evaluations. A team of National Cancer Institute investigators may visit family members to conduct such evaluations. Medical records may also be requested to document a family member's affected or unaffected status. Pathology blocks/tissue slides also may be collected and analyzed to document tumor histology.

After completion of all clinical studies, patients receive an explanation of study findings, appropriate counseling about their own status, and recommendations.

A certificate of confidentiality protecting the identity of research participants in this project has been issued by the National Cancer Institute.

Patients with known or suspected renal lesions may be followed every 3-36 months depending on characteristics (e.g., size and/or growth rate) of the renal lesions for documentation of the rate of progression of these lesions as part of the genotype/phenotype evaluation. Patients whose clinical status is indeterminate may be followed subsequently to determine their Birt Hogg Dube syndrome status.

PROJECTED ACCRUAL: A maximum of 450 patients will be accrued for this study within 3 years.

Study Design



Birt Hogg Dube Syndrome


DNA ploidy analysis, genetic linkage analysis, microarray analysis, mutation analysis


Warren Grant Magnuson Clinical Center - NCI Clinical Trials Referral Office
United States




National Cancer Institute (NCI)

Results (where available)

View Results


Published on BioPortfolio: 2014-08-27T03:56:00-0400

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