Journal
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
Volume 300, Issue 11, Pages 1334-1342Publisher
AMER MEDICAL ASSOC
DOI: 10.1001/jama.300.11.1334
Keywords
-
Categories
Funding
- Intramural Research Program of the Clinical Center
- National Institute of Neurologic Disorders and Stroke
- National Cancer Institute at the National Institutes of Health.
Ask authors/readers for more resources
von Hippel-Lindau disease ( VHL) is an autosomal- dominant neoplasia syndrome that is the result of a germline mutation of the VHL tumor suppressor gene on the short arm of chromosome 3. Patients with VHL are predisposed to develop lesions of the central nervous system and viscera. Central nervous system lesions include hemangioblastomas ( the most common tumor in VHL) and endolymphatic sac tumors ( ELSTs). Visceral manifestations include renal carcinomas and cysts, pancreatic neuroendocrine tumors and cysts, pheochromocytomas, and cystadenomas of the reproductive adnexal organs. Despite their benign pathology, hemangioblastomas and ELSTs are a frequent cause of morbidity and mortality in patients with VHL. Recent molecular biologic investigations into these VHL- associated central nervous system lesions provide new insight into their origin and development. Emerging data from serial imaging and clinical surveillance protocols provide insight into the natural history of these lesions. Because of the dissimilar pathobiology and clinical course between hemangioblastomas and ELSTs, the optimal management strategies for these neurologic manifestations of VHL are very different.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available