MUTATION OF THE VHL GENE IS ASSOCIATED EXCLUSIVELY WITH THE DEVELOPMENT OF NON-PAPILLARY RENAL-CELL CARCINOMAS

To define the possible role of the VHL gene in the development of spor adic renal cell carcinomas, 91 different parenchymal tumours of the ki dney have been investigated for mutation of the VHL gene by single str and conformation polymorphism (SSCP) and/or heteroduplex (HD) techniqu es. Chromosome 3p deletion was detected in 98 per cent of non-papillar y renal cell carcinomas and in 25 per cent of chromophobe renal cell c arcinomas, In 22 of the 43 non-papillary renal cell carcinomas, abnorm ally migrating DNA bands were detected by SSCP and/or HD analysis, No mobility shift was seen in any of the 23 chromophobe renal cell carcin omas, In addition, 15 papillary renal cell tumours and ten renal oncoc ytomas, which are characterized by genetic changes other than loss of chromosome 3p sequences, were analysed for mutation of the VHL gene. N one of these tumours showed abnormal migration patterns, The results i ndicate that mutation of the VHL gene is associated exclusively with t he development of non-papillary renal cell carcinoma.