National Cancer Institute®
Last Modified: March 1, 2002
UI - 11826016
AU - Takahashi M; Kahnoski R; Gross D; Nicol D; Teh BT
TI - Familial adult renal neoplasia.
SO - J Med Genet 2002 Jan;39(1):1-5
AD - Laboratory of Cancer Genetics, Van Andel Research Institute, Grand Rapids, MI 49503, USA.
Our understanding of the molecular mechanisms underlying the tumorigenesis of renal cell carcinoma (RCC) has partially come from studies of RCC related familial cancer syndromes such as von Hippel-Lindau (VHL) disease and hereditary papillary RCC (HPRC). These studies have led to the identification of RCC related genes, which, besides allowing accurate diagnosis of these diseases, have been found mutated or abnormally expressed in the sporadic counterparts of these familial renal tumours. To date, a number of renal tumour related syndromes have been described. We review recent advances in this field and discuss a genetic approach to managing familial cases of renal tumours occasionally encountered by cancer geneticists and urologists.
UI - 11688380
AU - Neumann HP; Riegler P; Huber W; Corradini R; Sessa A; Fontana D;
TI - Wetterauer U; Janetschek G The challenge of kidney lesions in von Hippel-Lindau disease.
SO - Contrib Nephrol 2001;(136):193-207
AD - Departments of Nephrology and Hypertension, Albert Ludwigs University, Freiburg, Germany. Neumann@mm41.ukl.uni-freiburg.de
UI - 11723376
AU - Sims KB
TI - Von Hippel-Lindau disease: gene to bedside.
SO - Curr Opin Neurol 2001 Dec;14(6):695-703
AD - Department of Neurology, Harvard Medical School, Massachusetts General Hospital, 100 Blossom Street, Boston, MA 02114, USA. firstname.lastname@example.org
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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