title: Identification of genetic alterations in upper urinary tract urothelial carcinoma in end-stage renal disease patients.
abstract: Clinical presentations of end-stage renal disease (ESRD) patients on dialysis with upper urinary tract urothelial carcinoma (UUT-UC) are different from those with normal renal function. The pathogenesis remains unknown. We investigated the pathogenetic influence of chromosomal aberrations in patient on dialysis with UUT-UC. The chromosomal aberrations of UUT-UC specimens from seven dialysis patients were assessed by conventional comparative genomic hybridization (cCGH). Subsequently, we further investigated 20 cases by whole genome and fine-tiling oligonucleotide array-based CGH to demonstrate gains and losses, and compared with the clinicopathologic background. The chromosomal aberrations in UUT-UC specimens from dialysis patients were more complex than in bladder urothelial carcinoma (B-UC). Our data showed that gains at 5p, 7, 19q, and losses at 4q, 9p, and 15q are common in UUT-UC of ESRD patients. Gains in regions associated with DNA repair genes were noted in this study. High-stage and high-grade tumors displayed more copy number variants. In addition, female ESRD patients with UUT-UC had more frequent chromosomal aberrations than their male counterparts. In conclusion, unique chromosomal aberrations were indentified in UUT-UC in ESRD patients.
authors.affiliation: Department of Surgery, Chia-Yi Chang Gung Memorial Hospital, Tao-Yuan, Taiwan.
authors.forename: Ching-Fang
authors.initials: CF
authors.lastname: Wu
authors.forename: See-Tong
authors.initials: ST
authors.lastname: Pang
authors.forename: Jia-Jen
authors.initials: JJ
authors.lastname: Shee
authors.forename: Phei-Lang
authors.initials: PL
authors.lastname: Chang
authors.forename: Cheng-Keng
authors.initials: CK
authors.lastname: Chuang
authors.forename: Chih-Shou
authors.initials: CS
authors.lastname: Chen
authors.forename: Shuen-Kuei
authors.initials: SK
authors.lastname: Liao
authors.forename: Wen-Hui
authors.initials: WH
authors.lastname: Weng
mesh_terms: D002295:Carcinoma, Transitional Cell / Q000235:genetics* / Q000473:pathology; D002869:Chromosome Aberrations; D002877:Chromosomes, Human / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007676:Kidney Failure, Chronic / Q000235:genetics* / Q000473:pathology; D008297:Male; D009367:Neoplasm Staging; D020411:Oligonucleotide Array Sequence Analysis; D011379:Prognosis; D015996:Survival Rate; D001749:Urinary Bladder Neoplasms / Q000235:genetics* / Q000473:pathology