Fluorescent microsatellite analysis reveals duplication of specific chromosomal regions in papillary renal cell tumors.

Trisomies of chromosomes 3q, 7, 8, 12, 16, 17q, and 20 and the loss of the Y chromosome are specific genetic changes in papillary renal cell tumors. Many papillary renal cell tumors show marker chromosomes by karyotyping, which may contain duplicated chromosomal sequences. To uncover such alterations, we have analyzed 35 papillary renal cell tumors for each chromosome arm mentioned above and also for the X and Y chromosomes by employing a fluorescent microsatellite assay. We detected allelic duplications at the following chromosomal regions: 7q31-33 (64%), 17q12-22 (70%), 16q24-qter (55%), 12q12-14 (42%), 8p21 (25%), 3q22-24 (24%), and 20q13 (48%). The Y chromosome was missing in 74% of tumors obtained from male patients. No deletion at chromosome 3p was detected. The microsatellite assay revealed several allelic duplications at the specific chromosomal regions in papillary renal cell tumors, which either showed rearranged chromosomes of unknown origin or did not show specific alterations by previous karyotyping.