Protocol Details

Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant Disorders

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	89-C-0086
Sponsoring Institute	National Cancer Institute (NCI)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: N/A Max Age: N/A
Referral Letter Required	No
Population Exclusion(s)	None
Special Instructions	Detailed family history will be obtained from study participants.
Keywords	Linkage Analysis; Renal Cell Carcinoma; Hemangioblastoma; Familial Kidney Cancer; Von Hippel-Lindau Disease; MR; CT; Gadolinium-DTPA
Recruitment Keyword(s)	None
Condition(s)	Hemangioblastoma; Hereditary Neoplastic Syndrome; Hippel Lindau Disease; Neoplasm; Renal Cell Carcinoma
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Cancer Institute

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.

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Eligibility

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.

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Citations:

Identification of the VHL gene: its role in renal carcinoma

Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas

Loss of alleles of loci on the short arm of chromosome 3 in renal cell carcinoma

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Contacts:

Principal Investigator	Referral Contact	For more information:
W. Marston Linehan, M.D. National Cancer Institute (NCI) National Institutes of Health Building 10 Room 1-5940 10 Center Drive Bethesda, Maryland 20892 (301) 496-6353 linehanm@mail.nih.gov	W. Marston Linehan, M.D. National Cancer Institute (NCI) National Institutes of Health Building 10 Room 1-5940 10 Center Drive Bethesda, Maryland 20892 (301) 496-6353 linehanm@mail.nih.gov	NCI Referral Office National Institute of Health Clinical Center (CC), 9000 Rockville Pike, Bethesda, Maryland 20892, United States: NCI Clinical Trials Referral Office 1-888-NCI-1937

Clinical Trials Number:

NCT00001238

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