Retinoblastoma is a pediatric tumor of the developing retina from which the genetic basis for cancer development was first described. Inactivation of both copies of the RB1 gene is the predominant initiating genetic lesion in retinoblastoma and is rate limiting for tumorigenesis. Recent whole-genome sequencing of retinoblastoma uncovered a tumor that had no coding-region mutations or focal chromosomal lesions other than in the RB1 gene, shifting the paradigm in the field. The retinoblastoma genome can be very stable; therefore, epigenetic deregulation of tumor-promoting pathways is required for tumorigenesis. This review highlights the genetic and epigenetic changes in retinoblastoma that have been reported, with special emphasis on recent whole-genome sequencing and epigenetic analyses that have identified novel candidate genes as potential therapeutic targets.

中文翻译：

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人类视网膜母细胞瘤的遗传学和表观遗传学。

视网膜母细胞瘤是视网膜发育中的儿科肿瘤，从其首次描述了癌症发展的遗传基础。RB1基因的两个拷贝的失活是视网膜母细胞瘤中主要的起始遗传损伤，并且是肿瘤发生的速率限制。视网膜母细胞瘤的最新全基因组测序发现了除了RB1基因外没有编码区突变或局灶性染色体病变的肿瘤，这改变了这一领域的范式。视网膜母细胞瘤基因组可以非常稳定。因此，肿瘤发生途径需要表观遗传去激活肿瘤促进途径。这篇评论重点介绍了已报道的视网膜母细胞瘤的遗传和表观遗传学变化，