von Hippel-Lindau Syndrome
Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant Disorders
NCI-89-C-0086, NCT00019617
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Investigator(s): |
W. Marston Linehan, M.D.
Principal Investigator
Phone: 301-496-6353
linehanm@mail.nih.gov
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Key Eligibility Criteria:
- Patients or family members of patients in one of the following disease categories:
- Suspected or established diagnosis of urologic malignant disorder for which genetic defect is known and mutation detection can be implemented, including the following:
- Von Hippel-Lindau (VHL) syndrome
- Hereditary papillary renal carcinoma, Type I
- Hereditary papillary renal carcinoma, Type II
- Birt-Hogg-Dube syndrome
- Suspected or established diagnosis of an inherited urologic malignancy for which the genetic defect is unknown, including but not limited to:
- Clear cell renal carcinoma
- Hereditary renal oncocytoma
- Hereditary chromophobe renal cell carcinoma
- Urologic malignancy of suspected, but not proven, genetic etiology, including families with more than one individual affected by the same or related cancers
- Patients or their family members must manifest one or more of the following features in a pattern suggestive of a heritable urologic malignancy:
- At least one histologically confirmed or suspected renal carcinoma and/or cyst
- Cerebellar, spinal, medullary, or cerebral hemangioblastomas
- Retinal angioma
- Pancreatic neuroendocrine carcinoma, microcystadenoma, and/or cysts
- Pheochromocytoma
- Papillary cystadenoma of the epididymis or broad ligament
- Endolymphatic sac tumor
- Cutaneous fibrofolliculomas or multiple skin-colored papules
- History of spontaneous pneumothorax
- Lung cysts
- Thyroid carcinoma
- Intestinal polyposis with or without colon cancer
- Cutaneous or uterine leiomyoma or uterine leiomyosarcoma or sarcoma
- Relatives or spouses enrolled primarily for genetic linkage studies are eligible but will not undergo imaging diagnostic testing
Study Outline:
- Patients undergo genetic counseling and possible genetic testing followed by a detailed personal and family medical history, complete physical examination, and collection of blood and tissue samples
- If clinically indicated, patients may undergo further diagnostic studies
- Testing may be done over 1—4 days
- All patients receive the results of the clinical tests
- Patients with urologic malignancies for which the genetic defect is known receive their genetic test results, with genetic counseling available
- Patients with active lesions are followed every 3 months to every 3 years, depending on clinical status
Additional Information:
- This trial will be conducted at the NIH Clinical Center in Bethesda, MD. It is open to patients who meet the eligibility requirements, regardless of where they live in the United States.
- There is no charge for medical care received at NIH Clinical Center.
- PDQ (Physicians Data Query) - provides additional details about this study for health care providers.
Reviewed: 12/14/12
Updated: 1/28/08
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