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Role of Von Hippel-Lindau gene mutation in Renal Cancer

Volume No : Volume: 02 Issue : 7 Year : 2014 Page No: 357-362

Authors : Tapan Behl, IshneetKaur, Jayarami Reddy, Rajesh Pandey

Abstract :

Renal cancer, specifically called renal cell carcinoma in the case of VHL disease, is a tumor of the renal cortex. It is the most common type of kidney cancer. The tumors associated with VHL inactivation are generally vastly vascular and are known to overproduce angiogenic factors such as vascular endothelial growth factor (VEGF). Besides, studies show that renal cell carcinoma is also linked with paraneoplasticerythrocytosis due to the overproduction of erythropoietin (Epo). Both VEGF and Epo are prototypical hypoxia-inducible mRNAs (i.e. their induction mostly occurs under the conditions illustrated by scarce oxygenation). The above contemplations have led to the sighting that the cells who lack pVHL (VHL protein) constitutively results in overproduction of hypoxia-inducible mRNAs and the restoration of pVHL function results in down-regulation of hypoxia-inducible mRNAs in the presence of oxygen. Thus, overproduction of hypoxia-inducible mRNAs is an attribute of pVHL-defective cells. Most genes, regulated by hypoxia, such as VEGF and Epo are under the control of a transcription factor called hypoxia-inducible factor (HIF). HIF is known to alter many target genes when it has been stabilized due to the dearth of pVHL. HIF plays an essential role in pVHL-defective tumor formation. This fact has led to an increase in the likelihood that the drugs which are intended against HIF or its downstream objectives might, in the near future, play a part in the management of renal cell carcinoma. Besides, many drugs have been developed that aim at HIF-responsive gene products. Many of these therapies have exhibited noteworthy doings in the clinical trials of renal cancer and indicate substantive progresses in the conduction, treatment and management of this disease.

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