Chromosome 3p deletion in a renal cell carcinoma cell line established from a patient with von Hippel-Lindau disease

von Hippel-Lindau disease (VHL) is an autosomal dominant inherited disease, frequently accom-panied by occurrences of renal cell carcinoma (RCC). Both the VHL gene and tumor suppres-sor genes for RCC have been mapped to the short arm of chromosome 3, although the genes have not yet been identified. An RCC cell line, KC12, was established from a VHL patient. Molecular genetic analyses in conjunction with cytogenetic studies revealed that the short arm of chromosome 3 distal to the D3S4 locus at 3p11 was lost in the RCC cell line as a result of an unbalanced translocation between chromosomes 3p and 5q. Structural and numerical aber-rations, including those on chromosome 3p, were not detected in T-lymphocytes from the pa-tient, suggesting that the inherited mutation of the VHL gene at 3p25-26 in this patient was too subtle to be detected by either Southern blot or karyotype analysis. Since no permanent RCC cell line has been established from a VHL patient, this cell line will be a useful source for analyzing the VHL gene at 3p25-26 and tumor suppressor gene(s) at 3p13-21. (Jpn J Clin Oncol 23: 226—231, 1993) Key words: Renal cell carcinoma—Chromosome 3p deletion—von Hippel-Lindau diseas