Pan-genomic study of primary human retinoblastoma samples. Pan-genomic study of primary human retinoblastoma samples

Retinoblastoma is the most common intraocular cancer of infancy and childhood, with an incidence of one case per 15,000 - 20,000 live births. An early event in retinoblastoma genesis is a functional loss of both alleles of the RB1 gene. However, other genes are likely to be involved in the development of this cancer. In this study we sought to build a comprehensive molecular portrait of this cancer by performing transcriptomic, methylomic, as well as genomic profiling of primary retinoblastoma samples. The patients whose tumors were studied had received no treatment prior to surgical enucleation. This SuperSeries is composed of the SubSeries listed below. Overall design: Refer to individual Series: 118 samples distincts Expression profiling by array (62 samples distincts, 66 files with replicates) Genome variation profiling by SNP array (44 samples by SNP 370k, 22 samples by SNP 610k and 28 samples by Cytoscan) Methylation profiling by genome tiling array (70 samples distincts, 74 files with replicates) Genome variation profiling by genome tiling array (51 samples by BAC 3k and 26 samples by BAC 5k)

视网膜母细胞瘤（Retinoblastoma）是婴幼儿最常见的眼内恶性肿瘤，活产儿发病率约为1/15000~1/20000。
视网膜母细胞瘤发生的早期标志性事件为RB1基因的两个等位基因均发生功能缺失，但该肿瘤的发生可能还涉及其他基因的参与。
本研究通过对原发性视网膜母细胞瘤样本开展转录组学、甲基化组学及基因组学分析，旨在构建该肿瘤的全面分子图谱。
本研究纳入的患者在手术摘除肿瘤前未接受过任何治疗。
本超级数据集由下述子数据集构成。
整体实验设计：详见各独立数据集：
118份独立样本
- 基于芯片的表达谱分析（62份独立样本，含重复样本的66个数据文件）
- SNP芯片基因组变异分析（44份样本使用SNP 370k芯片，22份样本使用SNP 610k芯片，28份样本使用Cytoscan芯片）
- 基于基因组平铺芯片的甲基化谱分析（70份独立样本，含重复样本的74个数据文件）
- 基于基因组平铺芯片的基因组变异分析（51份样本使用BAC 3k芯片，26份样本使用BAC 5k芯片）