Renal cell carcinoma- and pheochromocytoma-specific altered gene expression profiles in VHL mutant clones.

Von Hippel-Lindau (VHL) disease is associated with various missense germline mutations in the VHL tumor suppressor gene. Some are associated with type 1 VHL disease, renal cell carcinoma (RCC) without pheochromocytoma, while others are associated with type 2A or 2B VHL disease, pheochromocytoma without and with RCC, respectively. These mutations may cause substitutions of specific amino acid residue and functional change of VHL protein (pVHL), which leads to the oncogenesis of the particular tumor types that characterize the different VHL disease types.