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Exome sequencing of retinoblastoma tumors

Retinoblastoma is the most common intraocular cancer of infancy and childhood, with an incidence of one case per 15,000 - 20,000 live births. Patients in developed countries have a good prognosis. However, in most cases, enucleation of the affected eye is required. In low- and middle-income countries, retinoblastoma is frequently lethal. A loss of function of both alleles of the RB1 gene is an early event in the development of retinoblastoma. However, other genes are also likely to be involved in the development of this cancer. The long-term aim of our studies is to identify the additional events leading to retinoblastoma, whether genetic or epigenetic in nature, and to identify signaling pathways and therapeutic targets for this disease. We will start by performing a multi-omics analysis of retinoblastomas of different stages from France, Argentina and Spain. We will study the mutations (exome sequencing), genomic changes, transcriptome and methylome of 74 tumors. We will also investigate the transcriptome and methylome of the healthy retina. Immunohistochemistry studies will then be carried out for key proteins identified in these analyses. Correlations between molecular alterations and clinical features will be investigated and a validation study will be performed on an additional series of 40 samples.