title: Genomic imbalances in 61 renal cancers from the proximal tubulus detected by comparative genomic hybridization.
abstract: Comparative genomic hybridization (CGH) has been applied to characterize 61 primary renal cell carcinomas derived histogenetically from the proximal tubulus. The tumor samples comprised 46 clear-cell renal cell carcinomas (ccRCCs) and 15 papillary renal cell carcinomas (pRCCs). Changes in the copy number of entire chromosomes or subregions were detected in 56 tumors (92%). In ccRCCs, losses of chromosome 3 or 3p (63%); 14q (30%); 9 (26%); 1 and 6 or 6q (17% each); 4 and 8 or 8p (15% each); 22 (11%); 2 or 2q and 19 (9% each); 7q, 10, 16, 17p, 18, and Y (7% each); and 5, 11, 13, 15, and 21 (4% each) were detected. Most frequent genomic gains in ccRCC were found on chromosome 5 (63%); 7 (35%); 1 or 1q (33%); 2q (24%); 8 or 8q, 12, and 20 (20% each); 3q (17%); 16 (15%); 19 (13%); 6 and 17 or 17q (11% each); and 4, 10, 11, 21, and Y (9% each). In pRCCs, gains in the copy number of chromosomes 7 and 17 (7/15, each) and 16 and 20 (6/15, each) were frequent. One pRCC showed amplification of subchromosome regions 2q22-->q33, 16q, 17q and the entire X chromosome. In pRCC, losses were less frequently seen than gains. Losses of chromosomes 1, 14, 15, and Y (3/15 each) and 2, 4, 6, and 13 (2/15 each) were observed. In ccRCCs, statistical evaluation revealed significant correlations of chromosomal imbalances with tumor stage and grade, i.e., a gain in copy number of chromosome 5 correlated positively with low tumor grade, whereas a gain of chromosomes 10 and 17 correlated positively with high tumor grade. Furthermore, loss of chromosome 4 correlated positively with high tumor stage.
authors.affiliation: Children's Hospital, University of Mainz, Mainz, Germany.
authors.forename: D
authors.initials: D
authors.lastname: Reutzel
authors.forename: M
authors.initials: M
authors.lastname: Mende
authors.forename: S
authors.initials: S
authors.lastname: Naumann
authors.forename: S
authors.initials: S
authors.lastname: Störkel
authors.forename: W
authors.initials: W
authors.lastname: Brenner
authors.forename: B
authors.initials: B
authors.lastname: Zabel
authors.forename: J
authors.initials: J
authors.lastname: Decker
mesh_terms: D018262:Adenocarcinoma, Clear Cell / Q000235:genetics / Q000401:mortality / Q000473:pathology / Q000556:secondary; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001859:Bone Neoplasms / Q000556:secondary; D002291:Carcinoma, Papillary / Q000235:genetics / Q000401:mortality / Q000473:pathology / Q000556:secondary; D002869:Chromosome Aberrations / Q000235:genetics*; D005260:Female; D015894:Genome, Human; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000401:mortality / Q000473:pathology*; D007687:Kidney Tubules, Proximal / Q000378:metabolism / Q000473:pathology*; D008175:Lung Neoplasms / Q000556:secondary; D008297:Male; D008875:Middle Aged; D009364:Neoplasm Recurrence, Local; D009367:Neoplasm Staging; D009693:Nucleic Acid Hybridization; D012008:Recurrence; D015996:Survival Rate