Von Hippel-Lindau (VHL): Clinical Manifestations, Diagnosis, Management and Molecular Bases of Inherited Renal and Other Urologic Malignant Disorders
NCT ID: NCT00001238
Last Updated: 2025-11-10
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
5000 participants
OBSERVATIONAL
1990-12-05
Brief Summary
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Detailed Description
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* Disorders under investigation are: Autosomal dominant inherited urologic malignant disorders including: von Hippel-Lindau (VHL), hereditary papillary renal cancer (HPRC), Birt Hogg Dube (BHD) and hereditary leiomyomatosis and renal cell carcinoma (HLRCC) as well as familial renal cancer.
* Studies have led to the identification and characterization of the VHL, HPRC, FLCN and HLRCC genes.
* The genetic etiology of the most common type of inherited kidney cancer, familial renal cancer (FRC), remains to be determined.
Objectives:
* To characterize the natural and clinical histories of inherited urologic malignant disorders.
* To determine the genetic etiology of hereditary urologic malignant disorders in which the gene variation is unknown, by linkage analysis, positional cloning and evaluation of candidate genes.
* To correlate specific mutations and their associated protein domains with disease phenotypic expression based on parameters including presenting age, clinical manifestations, histopathology and rate of recurrence.
* To identify and describe as yet unknown or uncharacterized inherited urologic malignant disorders.
Eligibility:
* Individuals and biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is known, including von Hippel-Lindau (VHL) and hereditary papillary renal carcinoma (HPRC).
* Individuals and biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is not yet known, specifically hereditary forms of Type II papillary renal cancer, clear cell renal carcinoma, renal oncocytoma, chromophobe renal carcinoma or Birt Hogg Dube.
* Individuals and biologic family members who have urologic malignant diseases of suspected, but not proven genetic etiology, including families with more than one individual affected by the same or related cancers.
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 on the relative activity of various germline and somatic mutations.
* We will determine if there is a relationship between mutation and disease manifestations and phenotype.
Conditions
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Keywords
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Disease Category I
Individuals, biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is known, including VHL and HPRC
No interventions assigned to this group
Disease Category II
Individuals and biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is not yet known
No interventions assigned to this group
Disease Category III
Individuals and biologic family members with a urologic malignant disease of suspected, but not proven genetic etiology
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
Criteria for Acceptance into this Study (i.e., Disease Categories):
Disease Category I
Individuals and biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is known, including von Hippel-Lindau (VHL) and hereditary papillary renal carcinoma (HPRC).
Disease Category II
Individuals and biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is not yet known, specifically hereditary forms of Type II papillary renal cancer, clear cell renal carcinoma, renal oncocytoma, chromophobe renal carcinoma or Birt Hogg Dube.
Disease Category III
Individuals and biologic family members who have urologic malignant diseases of suspected, but not proven genetic etiology, including families with more than one individual affected by the same or related cancers. A total of 5000 individuals will be enrolled during the study (i.e., that includes individuals registered since the beginning of the protocols in 1989 (89C0086) and 1999 (99C0101)).
Enrollment per Subject Category (to include both affected and unaffected biologic relatives)
Subject Category A:
Category A will include individuals, and biologic relatives, who may or may not be affected who will be evaluated in the Warren G. Magnuson Clinical Center. Individuals in this category will be eligible if they or their biologic family members manifest one or more of the following features in a pattern suggestive of a heritable urologic malignant disorder:
* One or more histologically proven or suspected renal carcinomas and/or cysts
* Cerebellar, spinal, medullary or cerebral hemangioblastomas
* Retinal angioma
* Pancreatic neuro-endocrine carcinoma,micro cystadenoma 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 plus/minus colon cancer
* Cutaneous or Uterine leiomyoma or uterine leiomyosarcoma, sarcoma
Subject Category B:
Category B will include individuals and the biologic relatives of patients with inherited urologic malignancies with the above listed clinical findings who live at a distance and who will not be evaluated at the Clinical Center. In some cases, local diagnostic testing may be necessary for these individuals in addition to collection of a blood sample for molecular analysis.
Subject Category C:
Category C will include biologic relatives who enroll in this study primarily for genetic linkage studies. These individuals will contribute a blood sample for DNA analysis only. No imaging diagnostic testing will be performed on individuals from this category.
Exclusion Criteria
2 Years
ALL
Yes
Sponsors
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National Cancer Institute (NCI)
NIH
Responsible Party
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Principal Investigators
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W. Marston Linehan, M.D.
Role: PRINCIPAL_INVESTIGATOR
National Cancer Institute (NCI)
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, United States
Countries
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Central Contacts
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Facility Contacts
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For more information at the NIH Clinical Center contact National Cancer Institute Referral Office
Role: primary
Related Links
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NIH Clinical Center Detailed Web Page
Other Identifiers
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NCT00019617
Identifier Type: -
Identifier Source: nct_alias
89-C-0086
Identifier Type: -
Identifier Source: secondary_id
890086
Identifier Type: -
Identifier Source: org_study_id