The Von Hippel-Lindau Gene: Turning Discovery Into Therapy

Main Category: Urology / Nephrology
Also Included In: Cancer / Oncology
Article Date: 25 Dec 2008 - 1:00 PDT

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UroToday.com - Cancer remains a leading cause of morbidity and mortality in the United States. Efforts to reduce the pain and suffering due to cancer have met with some successes over the last several decades. Nevertheless, it has become increasingly apparent that further progress requires a more fundamental understanding of cancer's underlying biology.

The discovery and characterization of the von Hippel Lindau gene (VHL) and its fundamental role in clear cell renal cell carcinoma (ccRCC) represents a major step in achieving such a goal in at least one malignancy. The last three years have seen an explosion in the approval and dissemination of so called "Targeted Therapies" for advanced ccRCC, such as the tyrosine kinase inhibitors and inhibitors of the mammalian target of rapamycin (mTOR) pathway. All these approaches are fundamentally grounded in the biology of the VHL gene and the processes downstream of it. In time, it may be feasible to determine with greater precision the specific defects for a given patient, thereby allowing clinicians to truly "individualize" the treatment to that patient's particular tumor. The principles that were part of VHL's discovery and characterization are also being applied across a wide range of other disease states. The discovery of the VHL gene, therefore, represents a major milestone in the fight against cancer.

Though many questions remain unanswered, the type of work reviewed in this article demonstrates the power of scientific research to make a fundamental difference in patients' lives.

Written by Peter E. Clark, MD as part of Beyond the Abstract on UroToday.com

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