Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer
Recruiting · NCT00033137 · Observational (researchers observe without assigning treatment) · Lead sponsor: National Cancer Institute (NCI)
View the official record on ClinicalTrials.gov →What this trial is about
This study will investigate the genetic cause of Birt Hogg-Dube (BHD) syndrome and the relationship of this disorder to kidney cancer. BHD is a rare inherited condition characterized by papules, or bumps-benign tumors involving hair follicles-on the head and neck. People with BHD are at increased risk of developing kidney cancer. Scientists have identified the chromosome (strand of genetic material in the cell nucleus) that contains the BHD gene and the region of the gene on the chromosome. This study will try to learn more about: * The characteristics and type of kidney tumors associated with BHD * The risk of kidney cancer in people with BHD * Whether more than one gene causes BHD * The genetic mutations (changes) responsible for BHD Individuals with known or suspected Birt Hogg-Dube syndrome, and their family members, may be eligible for this study. Candidates will be screened with a family history and review of medical records, including pathology reports for tumors, and films of computed tomography (CT) and magnetic resonance imaging (MRI) scans. Participants may undergo various tests and procedures, including the following: * Physical examination * Review of personal and family history with a cancer doctor, cancer nurses, kidney surgeon, and genetic counselor * Chest and other x-rays * Ultrasound (imaging study using sound waves) * MRI (imaging study using radiowaves and a magnetic field) * CT scans of the chest and abdomen (imaging studies using radiation) * Blood tests for blood chemistries and genetic testing * Skin evaluation, including a skin biopsy (surgical removal of a small skin tissue sample for microscopic evaluation) * Cheek swab or mouthwash to collect cells for genetic analysis * Lung function studies * Medical photography of skin lesions These tests will be done on an outpatient basis in either one day or over 3 to 4 days. When the studies are complete, participants will receive counseling about the findings and recommendations. Individuals with kidney lesions may be asked to return periodically, such as every 3 to 36 months, based on their individual condition, to document the rate of progression of the lesions.
Who can take part
Inclusion criteria
- Individuals that meet one or more of the following criteria:
- Suspected or known to have phenotype or genotype suggestive of Birt-Hogg-Dube (BHD), such as:
- Individuals with at least one histologically confirmed fibrofolliculomas;
- Individuals with clinical evidence of multiple skin papules (without fibrofolliculoma biopsy confirmation) and a personal or family history of spontaneous pneumothorax/or kidney cancer;
- Individuals with spontaneous pneumothorax and skin papules or kidney cancer and a positive family history of spontaneous pneumothorax, skin papules or kidney cancer;
- Individuals with a known germline FLCN gene mutation
- Renal tumor histology consistent with BHD, including, but not limited to those suggestive of chromophobe, hybrid oncocytic neoplasm or oncocytoma.
- Are a relative (related by blood) of an individual with a confirmed or suspected diagnosis of BHD.
- Participants must be \>= 2 years of age.
- For children less than 18 years of age, parental permission or legal guardian consent will be obtained.
Exclusion criteria
- None.
Where it is running
1 location listed across 1 US state.
- National Institutes of Health Clinical Center - Bethesda, Maryland, United States