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

Launched by NATIONAL CANCER INSTITUTE (NCI) · Apr 5, 2002

Keywords

ClinConnect Summary

This clinical trial is studying Birt Hogg-Dube (BHD) syndrome, a rare inherited condition that can lead to kidney cancer and cause small bumps on the skin. Researchers want to understand more about the genetic causes of BHD, how it relates to different types of kidney tumors, and the overall risk of developing kidney cancer for people with this condition. By identifying changes in specific genes, they hope to gain deeper insights that could help with diagnosis and treatment.

If you or a family member has symptoms of BHD, such as skin bumps or a history of kidney cancer or lung issues, you might be eligible to participate. The study welcomes patients aged 2 and older, as well as their relatives. Participants will undergo various tests, including imaging scans and blood tests, over a few days. After the tests, you'll receive counseling on the results and any necessary follow-up. This research aims to improve understanding and management of BHD and its connection to kidney cancer, which could benefit many families affected by this condition.

Gender

ALL

Eligibility criteria

• -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