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Home > "C" Clinical Trials Conditions > Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant Disorders  Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant Disorders
Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant Disorders
For Condition: Hemangioblastoma,Hereditary Neoplastic Syndrome,Hippel Lindau Disease,Neoplasm,Renal Cell Carcinoma
Status: Recruiting
Sponsor(s): National Cancer Institute (NCI) ,
Synopsis: 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.
Details: 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.
Eligibility:
Study Type: Observational, Natural History
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry 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.
Total Enrollment: 2500
Location and Contact Information:
National Cancer Institute (NCI) *Recruiting*
Bethesda, Maryland, 20892
United States
Recruiting Clinical Support Center/NCI 1-888-624-1937
Additional Information:
Study ID Numbers: 890086; 89-C-0086
Study Start Date: April 20, 1989
Record last reviewed: March 1, 2004
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00001238
Other Hippel Lindau Disease Studies:
1. Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant Disorders
2. Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients with von Hippel Lindau Disease
3. Von Hippel-Lindau Disease Genetic Epidemiology Study
Related Studies:
Other Hippel Lindau Disease Clinical Trials
Other Maryland Clinical Trials
Other Bethesda Clinical Trials
Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant Disorders
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