Clinical and Prognostic Value of VHL in Korean Patients with Rectal Cancer

<i>Background and Objectives</i>: Von Hippel-Lindau (VHL) disease is caused by mutations in the VHL gene and can develop various cancers. Hypoxia-inducible factors 1 and 2 alphas, regulated by the VHL gene, can increase the levels of vascular endothelial growth factor, thereby activating cancer progression. Here, we demonstrated clinical and prognostic values of VHL expression in rectal cancer (RC). <i>Materials and Methods</i>: Von Hippel-Lindau mRNA expression was examined in 60 patients with RC. Furthermore, we evaluated survival to determine the prognostic significance of VHL mRNA expression levels in RC using the Cancer Genome Atlas (TCGA) data. <i>Results</i>: Lower VHL expression was correlated with the recurrence (<i>p</i> = 0.058) and lymphatic invasion (<i>p</i> = 0.078), although it was not statistically significant. In TCGA data, VHL expression level was correlated with the M stage (<i>p</i> = 0.044); however, it had a possible association with lymphatic invasion (<i>p</i> = 0.068) and N stage (<i>p</i> = 0.104). Survival analysis showed that lower VHL gene expression predicted poorer survival in both patients with RC and TCGA data. <i>Conclusions</i>: This study identified a significant correlation between VHL gene expression and RC for the first time using patient tissues and TCGA data, suggesting that the VHL gene expression level could be a potential biomarker or candidate for the treatment of RC. Further studies are required to identify the molecular pathogenesis and clinical characteristics of VHL disease in RC.