An observational study in Kidney Neoplasms, Kidney Cancer and Pneumothorax, sponsored by National Cancer Institute (NCI). Recruiting at 1 site in United States. Open to participants aged 2 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-09-22.
Sponsored by National Cancer Institute (NCI) · Observational
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:
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:
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.
Background:
Objectives:
Eligibility:
-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:
or
--Renal tumor histology consistent with BHD, including, but not limited to those suggestive of chromophobe, hybrid oncocytic neoplasm or oncocytoma
or
--Are a relative (related by blood) of an individual with a confirmed or suspected diagnosis of BHD
Design:
Individuals with histologically confirmed fibrofolliculomas, individuals with clinical evidence of multiple skin papules consistent with fibrofolliculomas, and/or a family history of spontaneous pneumothorax or kidney cancer, a biological relative of an individual with a confirmed diagnosis of BHD. Individuals with a known germline FLCN mutation
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;
or
--Individuals with clinical evidence of multiple skin papules (without fibrofolliculoma biopsy confirmation) and a personal or family history of spontaneous pneumothorax/or kidney cancer;
or
--Individuals with spontaneous pneumothorax and skin papules or kidney cancer and a positive family history of spontaneous pneumothorax, skin papules or kidney cancer;
or
--Individuals with a known germline FLCN gene mutation
OR
-Renal tumor histology consistent with BHD, including, but not limited to those suggestive of chromophobe, hybrid oncocytic neoplasm or oncocytoma.
OR
Are a relative (related by blood) of an individual with a confirmed or suspected diagnosis of BHD.
-Participants must be >= 2 years of age.
EXCLUSION CRITERIA:
None.
A relative of an individual with a confirmed or suspected diagnosis of BHD (related by blood)
Individuals with phenotype or genotype suggestive of Birt Hogg Dub(SqrRoot)(Copyright) and/or Renal tumor histology consistent with BHD
Spouses enrolled primarily for linkage analysis (Spouses have been removed from the inclusion criteria for this study. This closed cohort has been created for spouses previously enrolled on study.)
Identify genotype / phenotype correlations.
Collection of blood, saliva, tissue \& urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer
Time frame: on-going
Determine risk of renal cancer, lung cysts and fibrofollicullomas in patients with BHD.
Collection of blood, saliva, tissue \& urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer
Time frame: on-going
Determine if other genes contribute to BHD.
Collection of blood, saliva, tissue \& urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer
Time frame: on-going
Define types and characteristics (including patterns of growth) of renal cancer associated with BHD.
Collection of blood, saliva, tissue \& urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer
Time frame: on-going
Define the natural history of BHD related renal tumors.
Collection of blood, saliva, tissue \& urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer
Time frame: on-going
Plan to share: Yes — All IPD recorded in the medical record will be shared with intramural investigators upon request. @@@@@@In addition, all large scale genomic sequencing data will be shared with subscribers to dbGaP.
Supporting information: Study protocol, Sap, Icf
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National Cancer Institute (NCI)