Genomic profiling of renal cell carcinoma in patients with end-stage renal disease

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The purpose of this study was to determine the genomic profile of renal cell carcinoma in end-stage renal disease (RCC-ESRD) by analysis of genomic copy number aberrations (CNAs). Seventy-nine tumor samples from 63 patients with RCC-ESRD were analyzed by array comparative genomic hybridization (array CGH) using the Agil ent Whole Human Genome 4×44K Oligo Micro Array. Unsupervised hierarchical clustering analysis revealed that the 63 cases were divisible into two groups: clusters A and B. Cluster A comprised mainly clear cell RCCs (CCRCCs), whereas cluster B comprised mainly papillary RCCs (PRCCs), acquired cystic disease (ACD)-associated RCCs and clear cell papillary RCCs. Analysis of the averaged frequencies revealed that the genomic profiles of clusters A and B resembled those of sporadic CCRCC and sporadic papillary RCC (PRCC), respectively. Although, on the basis of histopathology, it has been proposed that ACD-associated RCC, clear cell papillary RCC and PRCC-ESRD are distinct subtypes, our present data reveal that their genomic profiles categorized as cluster B resemble one another. Furthermore, genomic profiles of PRCC, ACD-associated RCC and clear cell papillary RCC admixed in one tissue tended to resemble one another. On the basis of genomic profiling of RCC-ESRD, we conclude that the molecular pathogenesis of CCRCC-ESRD resembles that of sporadic CCRCC. Although various histologic subtypes of non-CCRCC-ESRD have been proposed, their genomic profiles resemble those of sporadic PRCC, suggesting that the molecular pathogenesis of non-CCRCC-ESRD might be related to that of sporadic PRCC.