Copy Number Analysis of Renal Epithelial Neoplasms. Homo sapiens

Renal tumors with complex morphology require extensive workup for accurate classification. Chromosomal aberrations that define subtypes of renal epithelial neoplasms have been reported. We explored if whole-genome chromosome copy number and loss-of-heterozygosity analysis with single nucleotide polymorphism (SNP) arrays can be used to identify these aberrations. Keywords: Chromosome copy number and LOH analysis with SNP Genotyping Arrays Overall design: We analyzed 20 paraffin-embedded tissues representing conventional renal cell carcinoma (RCC), papillary RCC, chromophobe RCC, and oncocytoma with Affymetrix GeneChip 10K 2.0 Mapping arrays.

形态复杂的肾肿瘤需开展全面检查评估以实现精准分类。已有研究报道了可定义肾上皮肿瘤亚型的染色体畸变。本研究探讨了采用单核苷酸多态性（single nucleotide polymorphism, SNP）阵列进行全基因组染色体拷贝数分析与杂合性缺失分析，能否用于识别此类染色体畸变。
关键词：基于单核苷酸多态性基因分型阵列的染色体拷贝数与杂合性缺失分析
整体实验设计：本研究使用Affymetrix GeneChip 10K 2.0定位阵列，分析了20份石蜡包埋组织样本，涵盖常规肾细胞癌（renal cell carcinoma, RCC）、乳头状肾细胞癌、嫌色性肾细胞癌以及嗜酸细胞瘤。