2017 Volume 63 Issue 5 Pages 326-330
Mutation or inactivation of the von Hippel-Lindau (VHL) tumor suppressor gene is an early event in the pathogenesis of clear cell renal cell carcinomas (RCCs) and is common in both hereditary and nonhereditary forms.
VHL disease is the most common hereditary renal cancer and is caused by the mutation of germline VHL gene. We summarized characteristics of Chinese VHL disease patients: There is a high proportion of novel mutation in Chinese VHL patients. The prevalence of novel mutations without family history was higher in this group of patients, presumably demonstrating the higher prevalence of de novo mutations in VHL gene in Chinese VHL disease patients. And genetic anticipation is existed in Chinese VHL patients.
In the research around VHL-Hypoxia-inducible factor (HIF)-Erythropoietin (EPO) pathway in RCC, we found HIF-2α is expressed more frequently than HIF-1α, and is more important in up-regulating the downstream molecules. Activation of EPO pathway is involved in cell growth, invasion, survival, and sensitivity to the targeted drug in RCCs, this is a potential therapeutic target for renal cancer.
