This study is currently recruiting participants.
Number
02-C-0159
Sponsoring Institute
National Cancer Institute (NCI)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 2 Years Max Age: N/A
Referral Letter Required
No
Population Exclusion(s)
None
Keywords
Pneumothorax; Kidney; Fibrofolliculoma; BHD; Neoplasms; Natural History
Recruitment Keyword(s)
Condition(s)
Kidney Neoplasms; Kidney Cancer; Pneumothorax; FLCN protein, human
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Cancer Institute
- 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
Patients 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. Patients 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.
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INCLUSION CRITERIA: 1. Patients suspected or known to have phenotype or genotype suggestive of Birt-Hogg-Dube, such as: -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 -Patients with a known germline FLCN gene mutation 2. Renal tumor histology consistent with BHD, including, but not limited to those suggestive of chromophobe, oncocytic neoplasm or oncocytoma. 3. All patients and guardians, for children younger than 18 years of age, must sign an informed consent document indicating their understanding of the investigational nature and the risks of this study before any protocol related studies are performed. Patients under the age of 18 but who are age 13 or older will be asked to sign an assent document prior to participation. 4. Participants must be greater than or equal to 2 years of age. 5. A relative (related by blood) of a patient with a confirmed or suspected diagnosis of BHD. EXCLUSION CRITERIA: NONE
1. Patients suspected or known to have phenotype or genotype suggestive of Birt-Hogg-Dube, such as:
-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
-Patients with a known germline FLCN gene mutation
2. Renal tumor histology consistent with BHD, including, but not limited to those suggestive of chromophobe, oncocytic neoplasm or oncocytoma.
3. All patients and guardians, for children younger than 18 years of age, must sign an informed consent document indicating their understanding of the investigational nature and the risks of this study before any protocol related studies are performed. Patients
under the age of 18 but who are age 13 or older will be asked to sign an assent document prior to participation.
4. Participants must be greater than or equal to 2 years of age.
5. A relative (related by blood) of a patient with a confirmed or suspected diagnosis of BHD.
EXCLUSION CRITERIA:
NONE
Principal Investigator
Referral Contact
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