• This review outlines the current understanding of the genomic, genetic and epigenetic changes in retinoblastoma, highlighting recent genome-wide analyses that have identified exciting candidate genes worthy of further validation as potential prognostic and therapeutic targets.

    The authors write that retinoblastoma is a pediatric ocular tumor that continues to reveal much about the genetic basis of cancer development. Study of genomic aberrations in retinoblastoma tumors has exposed important mechanisms of cancer development and identified oncogenes and tumor suppressors that offer potential points of therapeutic intervention.

    They explain that the recent development of next-generation genomic technologies has allowed further refinement of the genomic landscape of retinoblastoma at high resolution. In a relatively short period of time, a wealth of genetic and epigenetic data has emerged on a small number of tumor samples. These data highlight the inherent molecular complexity of this cancer despite the fact that most retinoblastomas are initiated by the inactivation of a single tumor suppressor gene.

    They conclude that individualized testing and analysis will validate emerging genomic candidates for improving retinoblastoma therapy.