The genomic landscape of retinoblastoma: a review

Abstract

Retinoblastoma is a paediatric ocular tumour that continues to reveal much about the genetic basis of cancer development. Study of genomic aberrations in retinoblastoma tumours has exposed important mechanisms of cancer development, and identified oncogenes and tumour suppressors that offer potential points of therapeutic intervention. 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 tumour 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 tumour suppressor gene. Here, we review 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.

Retinoblastoma outcome at a single institution in South Africa

“…2). If absconding patients were excluded, event-free survival was 50% for group 1 and improved to 68% for group 2, not yet statistically significant but with a trend towards significance (p=0.18) (Fig. 3).…”

“…[1] The majority of bilateral tumours (75%) and about 15% of unilateral tumours are hereditary, and these patients usually present with more than one tumour in one or both eyes. [2] RB appears to be more common in Africa and Latin America. [3,4] Survival is excellent in developed countries, where the survival rate is >95%, but it is only ~50% in developing countries, mostly because of late diagnosis and extraocular disease at diagnosis.…”

Targeting HMGA2 in Retinoblastoma Cells in vitro Using the Aptamer Strategy

“…Currently, focal therapy, systemic chemotherapy and in selected cases, intra-arterial and intra-vitreal chemotherapy for vitreous seeds and/or enucleation are part of RB tumour management. New therapeutic targets are being identified using novel genomic tools [3] and novel molecules such are small RNAs, antagomirs [4] and aptamers [5,6]. …”

Epigenetic Control of Trefoil Factor Family (TFF) Peptide Expression in Human Retinoblastoma Cell Lines

“…A most recent study in 2014 by Feng et al demonstrated that the methylation status of the CpG islands in the promoter region correlate with TFF1 expression levels in human gastric cancer cells and DNA methylation is a key mechanism of silencing TFF1 in gastric carcinomas [26]. Besides, TFF1 has been described as a differentially methylated gene in Rb tumors [44] and as one of the up-regulated genes in primary retinoblastomas with a matching activating histone modification [45]. …”