We will investigate the clinical manifestations and molecular genetic defects of heritable urologic malignant disorders. Families with urologic malignancy with known or suspected genetic basis will be enrolled. Affected individuals or individuals suspected of having a germline urologic malignant disorder will undergo periodic clinical assessment and genetic analyses for the purpose of: 1) definition and characterization of phenotype, 2) determination of the natural history of the disorder, and 3) genotype/phenotype correlation. Genetic linkage studies may be performed in situations in which the genetic basis of the disorder has not been elucidated.

Condition
Hemangioblastoma Hereditary Neoplastic Syndrome Hippel Lindau Disease Neoplasm Renal Cell Carcinoma

Further Study Details: 

Expected Total Enrollment:  3000

We will investigate the clinical manifestations and molecular genetic defects of heritable urologic malignant disorders. Families with urologic malignancy with known or suspected genetic basis will be enrolled. Affected individuals or individuals suspected of having a germline urologic malignant disorder will undergo periodic clinical assessment and genetic analyses for the purpose of: 1) definition and characterization of phenotype, 2) determination of the natural history of the disorder, and 3) genotype/phenotype correlation. Genetic linkage studies may be performed in situations in which the genetic basis of the disorder has not been elucidated.

Genders Eligible for Study:  Both

Criteria

INCLUSION CRITERIA - Subject Category A:
Category A will include patients, and relatives, who may or may not be affected who will be evaluated in the Warren G. Magnuson Clinical Center. Patients in this category will be eligible if they or their 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, microcystadenoma and/or cysts
Pheochromocytoma
Papillary cystadenoma of the epididymis or broad ligament
Endolymphatic sac tumor
Known or suspected cutaneous fibrofolliculomas or multiple skin-colored papules
History of spontaneous pneumothorax
Lung cysts
Thyroid carcinoma
Intestinal polyposis + / - colon cancer
Cutaneous or Uterine leiomyoma or uterine leiomyosarcoma, sarcoma
INCLUSION CRITERIA - Subject Category B:
Category B will include patients, their at-risk relatives and spouses 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.
INCLUSION CRITERIA - Subject Category C:
Category C will include relatives and spouses 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:
Persons unable to give informed consent.

Maryland
      National Cancer Institute (NCI), 9000 Rockville Pike,  Bethesda,  Maryland,  20892,  United States; Recruiting

Study ID Numbers:  890086; 89-C-0086
Record last reviewed:  March 1, 2005
Last Updated:  March 4, 2005
Record first received:  November 3, 1999
ClinicalTrials.gov Identifier:  NCT00001238
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2005-04-08