Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer

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Status: Active

Description

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. ...

Eligibility Criteria

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.

Locations & Contacts

Maryland

Bethesda
National Institutes of Health Clinical Center
Status: Active
Contact: National Cancer Institute Referral Office
Phone: 888-624-1937

Trial Objectives and Outline

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.

Trial Phase & Type

Trial Phase

No phase specified

Trial Type

Not provided by clinicaltrials.gov

Lead Organization

Lead Organization
National Cancer Institute

Principal Investigator
William Marston Linehan

Trial IDs

Primary ID 020159
Secondary IDs 02-C-0159, NCI-2018-02172, NCI-2013-02029, 02-C-0159
Clinicaltrials.gov ID NCT00033137