Table of Contents
1
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.
2
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
3
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.
sims@helix.mgh.harvard.edu
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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