NCI CANCERLIT^® Search: Von Hippel-Lindau Syndrome - September 2001

Last Modified: November 1, 2001

Investigating familial endocrine neoplasia syndromes in children.
Insights into the role of the von Hippel-Lindau gene product. A key player in hypoxic regulation.

CancerMail from the National Cancer Institute

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UI - 21301480
AU - Johnston LB; Chew SL; Lowe D; Reznek R; Monson JP; Savage MO
TI - Investigating familial endocrine neoplasia syndromes in children.
SO - Horm Res 2001;55 Suppl 1():31-5
AD - St Bartholomew's Hospital, London, UK. l.b.johnston@mds.qmw.ac.uk
Familial endocrine neoplasia syndromes multiple endocrine neoplasia (MEN) type 1, MEN type 2 and von Hippel Lindau (VHL) can now be diagnosed genetically in childhood. Paediatric endocrinologists must therefore be prepared to investigate and manage these children. This paper provides an overview of the major features of these syndromes and suggests protocols for regular screening of children known to be at risk of developing these disorders. Copyright 2001 S. Karger AG, Basel.

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UI - 21315993
AU - Maxwell PH; Pugh CW; Ratcliffe PJ
TI - Insights into the role of the von Hippel-Lindau gene product. A key player in hypoxic regulation.
SO - Exp Nephrol 2001;9(4):235-40
AD - Nephrology and Oxygen-Sensing Laboratory, Henry Wellcome Building of Genomic Medicine, Oxford, UK. pmaxwell@hammer.imm.ox.ac.uk
Many adaptive responses to hypoxia involve changes in gene transcription mediated by the hypoxia-inducible factor 1 complex. Central to this is oxygen-dependent proteolysis of the alpha subunit, which has recently been shown to require the von Hippel-Lindau tumour-suppressor protein. This observation provides one mechanism by which inherited defects in the von Hippel-Lindau gene could cause features of the clinical syndrome, and offers insight into the events leading to sporadic clear cell renal cancer. Furthermore, it clearly implicates the von Hippel-Lindau tumour-suppressor protein in the biochemistry of oxygen sensing. Copyright 2001 S. Karger AG, Basel