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

Launched by NATIONAL CANCER INSTITUTE (NCI) · Nov 3, 1999

Keywords

ClinConnect Summary

This clinical trial is focused on studying inherited kidney cancers and other related urologic disorders. Researchers want to understand how these conditions affect individuals and their families, looking at both the signs of the disease and the genetic factors involved. Families with a history of these cancers are invited to participate, whether they have a confirmed diagnosis or suspect a genetic link. The goal is to learn more about how these diseases develop, how they can be diagnosed, and how genetic information can help in understanding and managing them.

To be eligible for the trial, participants need to be at least 2 years old and can include both affected individuals and their family members. Participants will undergo assessments and genetic testing, which will help researchers gather important information about the diseases. If you're part of a family with multiple cases of kidney cancer or related disorders, this trial could be an opportunity to contribute to valuable research that may improve future diagnosis and treatment options. There are no exclusion criteria, so anyone who meets the age requirement and has the appropriate family history can consider joining.

Gender

ALL

Eligibility criteria

• * INCLUSION CRITERIA:
• • Participants must be greater than or equal to 2 years of age. All patients 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. Patients under the age of 18 but who are age 13 or older will be asked to sign an assent document prior to participation.
• 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 patients, and biologic 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 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, 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
• Subject Category B:
• • Category B will include patients 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

Trial Officials