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

Description

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.

Conditions

Kidney Cancer, Urologic Malignant Disorders, Renal Cell Carcinoma, Familial Renal Cancer (FRC), Clear Cell Renal Cancer

Study Overview

Study Details

Study overview

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.

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

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

Condition
Kidney Cancer
Intervention / Treatment

-

Contacts and Locations

Bethesda

National Institutes of Health Clinical Center, Bethesda, Maryland, United States, 20892

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * 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
  • * 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

Ages Eligible for Study

2 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

National Cancer Institute (NCI),

W. Marston Linehan, M.D., PRINCIPAL_INVESTIGATOR, National Cancer Institute (NCI)

Study Record Dates

N/A