Von Hippel-Lindau disease: gene to bedside.
Curr Opin Neurol
; 14(6): 695-703, 2001 Dec.
Article
en En
| MEDLINE
| ID: mdl-11723376
ABSTRACT
Von Hippel-Lindau is an autosomal dominant familial tumor syndrome with a risk of developing central nervous system and retinal hemangioblastomas, kidney cysts and clear cell carcinoma, cyst adenomas of other organs and pheochromocytoma. Despite continued elaboration of the neurobiologic role of the von Hippel-Lindau protein, the mainstay of management remains the definitive clinical diagnosis of von Hippel-Lindau syndrome (as distinct from sporadic cases of single von Hippel-Lindau-associated tumors), clinical monitoring and preemptive intervention by surgical or ablative therapy. Specific pharmacologic treatment awaits further biologic understanding of critical pathogenic components. Increasingly sensitive imaging and surgical techniques allow for optimum clinical management and intervention. This article will review von Hippel-Lindau molecular genetics, genotype-phenotype correlations and clinical classification, current understanding of the biology of the von Hippel-Lindau protein, its role in the pathophysiology of this disorder and the consequent implications for future therapeutic/interventional strategies. Central nervous system manifestations will be highlighted.
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Base de datos:
MEDLINE
Asunto principal:
Neoplasias Encefálicas
/
Proteínas Supresoras de Tumor
/
Ubiquitina-Proteína Ligasas
/
Enfermedad de von Hippel-Lindau
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Curr Opin Neurol
Asunto de la revista:
NEUROLOGIA
Año:
2001
Tipo del documento:
Article
País de afiliación:
Estados Unidos