End-stage renal disease (
ESRD) patients have an increased risk of
carcinoma of the kidney, thought to result from development of a disproportionately high number of papillary
renal cell carcinomas. This study was undertaken to discover whether these
renal carcinomas have a deletion of the short arm of chromosome 3, which characterizes conventional (clear cell)
carcinomas, or
trisomies of chromosomes 7 and 17, which characterize the majority of sporadic papillary renal cell
neoplasms. Archival specimens from 17 end-stage kidneys containing
renal cell carcinomas were collected from 16
ESRD patients.
DNA was extracted from
paraffin blocks of
tumor and nontumorous tissue. Microsatellites on the long and short arm of chromosomes 3, 7, and 17 were amplified in paired "normal"
tumor samples. Heterozygous loci were analyzed for loss of heterozygosity, indicating a deletion, and for allele ratio differences, indicating a duplication. Successful microsatellite studies were obtained on 18
tumors (2 conventional
carcinomas, 14
papillary carcinomas, 2 unclassified [solid, eosinophilic cell]
carcinomas). Of the
papillary carcinomas, none had a 3p deletion, five had
trisomies of both chromosomes 7 and 17, six had no changes in chromosomes 7 and 17, and three had either
trisomy 7 or trisomy 17 but not both. A 3p deletion was present in one of two conventional
carcinomas. No chromosome 3, 7, or 17 changes were identified in the unclassified
carcinomas. The genetic abnormalities in 6 of 18
ESRD tumors seemed to be the same as those found in sporadic papillary or conventional
renal cell carcinomas. Nine of 14
papillary carcinomas did not show allelic duplications of chromosomes 7 and 17. This is uncharacteristic of the findings reported for most of the sporadic forms of the
neoplasm and suggests that the genetic mechanism underlying the development of many papillary
renal cell carcinomas in
ESRD patients might be different than that of the general population.