Von Hippel-Lindau (VHL): Clinical Manifestations, Diagnosis, Management and Molecular Bases of Inherited Renal and Other Urologic Malignant Disorders

* INCLUSION CRITERIA:

Participants must be greater than or equal to 2 years of age. All participants 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.

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:

None