Current as of March 05, 2024
Background: Disorders under investigation are: Autosomal dominant inherited urologic malignant disorders including: von Hippel-Lindau (VHL), hereditary papillary renal cancer (HPRC), Birt Hogg Dube (BHD) and hereditary leiomyomatosis and renal cell acarcinoma (HLRCC) as well as familial renal cancer. Studies have led to the identification and characterization of the VHL, HPRC, FLCN and HLRCC genes. The genetic etiology of the most common type of inherited kidney cancer, familial renal cancer (FRC), remains to be determined. Objectives: To characterize the natural and clinical histories o...
- 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
- 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:
The National Institute of Allergy and Infectious Diseases (NIAID, /ˈnaɪ.æd/) is one of the 27 institutes and centers that make up the National Institutes of Health (NIH), an agency of the United States Department of Health and Human Services (HHS). NIAID's mission is to conduct basic and applied research to better understand, treat, and prevent infectious, immunologic, and allergic diseases.
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Bethesda, Maryland, United States
Bethesda, Maryland, United States
All reviews come from applied patients