Establishment and characterization of a renal cell carcinoma line from a patient with von Hippel-Lindau syndrome

Abstract It is not known how the von Hippel-Lindau (VHL) gene and the, as yet unidentified, renal cell carcinoma (RCC) gene(s) interact to result in RCC; nor is it known if mutations in both, or all genes are necessary for this progression. The availability of a RCC cell line from a VHL patient would be useful in studies comparing sporadic RCC with RCC resulting from VHL syndrome; and for determining the relationship or interaction of the RCC gene with the VHL gene to produce a common tumor type. This paper describes the isolation and characterization of a renal cell carcinoma cell line derived from a patient with von Hippel-Lindau disease. The line is epithelial in origin and the genome contains a familial mutation in the VHL gene. Tissue culture studies indicate that this cell line, although immortalized, is not fully transformed. Chromosomal analysis performed on cells derived from disseminated primary tumor cells revealed no detectable chromosomal abnormalities. However, analysis performed on cells at passages 9, 19, 41, and 79 showed both numerical and structural chromosomal changes. The cytogenetic profile of this cell line demonstrated a number of abnormalities known to be associated with RCC from patients with and without VHL syndrome.