Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer
- - 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.
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 Phase NA
Trial Type Not provided by clinicaltrials.gov
National Cancer Institute
William Marston Linehan
- Primary ID 020159
- Secondary IDs NCI-2018-02172, 02-C-0159, NCI-2013-02029
- Clinicaltrials.gov ID NCT00033137