Since the identification of the VHL gene significant progress has been made in defining the precise mutations associated with this disease (109). It hopefully will be possible to have a reliable genetic test for most if not all of the genetic mutations in VHL within a few years. This will allow testing of individuals with no family history of VHL. The possibility of additional "modulatory" genes that affect the expressivity of VHL needs to be explored (84).
The advances in the diagnosis of VHL may have ramifications for the diagnosis and treatment of non-familial malignancies such as renal cell carcinoma, cerebellar hemangioblastoma and pheochromocytoma. Two recent studies have shown that over 50% of sporadic clear cell renal carcinomas had abnormalities in the VHL gene locus (29,109). The normal and tumor associated functions of the VHL gene and its protein product remain to be elucidated (84). It may be possible to more accurately stratify tumors not only in their size, stage and grade, but also by their genetic composition. Ultimately, knowledge gained from the study of von Hippel-Lindau disease may be used to guide the development for therapy directed against tumors in the general population.
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