Identification of the von Hippel-Lindau (VHL) gene: its role in renal cancer
Article Abstract:
The identification of the von Hippel-Lindau (VHL) gene may provide insight into the genetic basis of human renal carcinoma. VHL disease is a hereditary syndrome that causes renal carcinoma in almost 40% of patients. Renal carcinoma is the most common type of kidney cancer and occurs in both inherited and noninherited forms. Examinations of renal tumor tissue from VHL patients revealed a loss of genetic material on chromosome 3p, which is a characteristic of tumor suppressor genes. Linkage analysis localized the gene for VHL to the RAF1 gene, located near the end of chromosome 3p. Cloning studies identified the VHL gene and DNA screening tests for VHL disease were developed. Tumor tissue from many patients with renal carcinoma had abnormalities in the VHL gene, which indicates that VHL gene mutations may play a critical role in the development of nonhereditary renal cancer.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 1995
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Screening for von Hippel-Lindau disease by DNA polymorphism analysis
Article Abstract:
Individuals who carry genes for von Hippel-Lindau (VHL) disease may be identified through DNA analysis. VHL disease is a rare genetic disorder that causes the formation of tumors in organs throughout the body. Out of 48 asymptomatic individuals who were at high risk for VHL disease, DNA screening identified nine individuals as carriers of VHL disease, and ruled out 33 individuals as VHL carriers. DNA screening was inconclusive for six other individuals. Medical examination of the 48 individuals revealed that all nine individuals identified as VHL carriers had evidence of VHL disease. One of the 33 individuals identified as a non-VHL carrier had a single renal cell carcinoma, but it did not have the characteristics of VHL disease and was considered a spontaneous tumor. Early detection of VHL disease can allow for earlier treatment and longer survival for VHL patients.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 1992
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Endolymphatic sac tumors: a source of morbid hearing loss in von Hippel-Lindau disease
Article Abstract:
Many patients with von Hippel-Lindau disease may have endolymphatic sac tumors that could account for their hearing loss. Von Hippel-Lindau (VHL) disease is characterized by the development of benign and malignant tumors in various parts of the body. Researchers analyzed the MRI scans of 121 patients with VHL and found that 13 (11%) had an endolymphatic sac tumor, which occurs in the temporal bone of the skull. None of the 253 patients without VHL had this tumor. All 13 patients with the tumor had hearing loss.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 1997
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