Allelic loss at 10q23.3 but lack of mutation of PTEN/MMAC1 in chromophobe renal cell carcinoma

Chromophobe renal cell carcinoma (RCC) is characterized by loss of multiple chromosomes including chromosome 10. This study was undertaken to determine the LOH at the PTEN/MMAC1 locus (chromosome band 10q23.3) and to search for gene mutations in 15 chromophobe, 50 conventional, and 10 papillary RCCs as well as in 10 renal oncocytomas. Loss of heterozygosity (LOH) wa seen at all informative loci in all chromophobe RCCs and in two conventional RCCs. We did not find mutations by analyzing exon 1 to 9 of the PTEN/MMAC1 gene using the PCR-SSCP technique in tumors with LOH at 10q23.3.