ESTABLISHMENT AND CHARACTERIZATION OF A RENAL-CELL CARCINOMA LINE FROM A PATIENT WITH VON-HIPPEL-LINDAU-SYNDROME

It is not known ho cv the von Hippel-Lindau (VHL) gene and the, as yet unidentified, renal cell carcinoma (RCC) gene(s) interact to result i n RCC; nor is it known if mutations in both, or all genes are necessar y for this progression. The availability of a RCC cell line from a VHL patient would be useful in studies comparing sporadic RCC with RCC re sulting from VHL syndrome; and for determining the relationship or int eraction of the RCC gene with the VHL gene to produce a common tumor t ype. This paper describes the isolation and characterization of a rena l cell carcinoma cell line derived from a patient with von Hippel-Lind au disease. The line is epithelial in origin and the genome contains a familial mutation in the VHL gene. Tissue culture studies indicate th at this cell line, although immortalized, is not fully transformed. Ch romosomal analysis performed on cells derived from disseminated primar y tumor cells revealed no detectable chromosomal abnormalities. Howeve r, analysis performed on cells at passages 9, 19, 41, and 79 showed bo th numerical and structural chromosomal changes. The cytogenetic profi le of this cell line demonstrated a number of abnormalities known to b e associated with RCC from patients with and without VHL syndrome. (C) Elsevier Science Inc., 1997.