Protocol Number: 02-C-0159

Title:

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

Number:

02-C-0159

Summary:

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

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.

Sponsoring Institute:

National Cancer Institute (NCI)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility 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.

EXCLUSION CRITERIA:

Persons unable to give informed consent.

Special Instructions:

Currently Not Provided

Keywords:

Pneumothorax

Kidney

Fibrofolliculoma

BHD

Neoplasms

Recruitment Keyword(s):

Kidney Cancer

Birt Hogg Dube Syndrome

Skin Papules

Condition(s):

Syndrome

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Cancer Institute

Contact(s):

NCI Referral Office
National Institute of Health Clinical Center (CC), 9000 Rockville Pike, Bethesda, Maryland 20892, United States: NCI Clinical Trials Referral Office
Phone: 1-888-NCI-1937
Fax: Not Listed
Electronic Address: ncicssc@mail.nih.gov

Citation(s):

Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T, Kuzmin I,Modi W, Geil L, et al Identification of the von Hippel-Lindau disease tumor suppressor geneScience 1993 May 28;260(5112):1317-20

Linehan WM, Lerman MI, Zbar B Identification of the von Hippel-Lindau (VHL) gene Its role in renal cancerJAMA 1995 Feb 15;273(7):564-70 Review No abstract available

Schmidt L, Duh FM, Chen F, Kishida T, Glenn G, Choyke P, Scherer SW, ZhuangZ, Lubensky I, Dean M, Allikmets R, Chidambaram A, Bergerheim UR, Feltis JT,Casadevall C, Zamarron A, Bernues M, Richard S, Lips CJ, Walther MM, Tsui LC,Geil L, Orcutt ML, Stackhou

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