Tumor Type

Eye Cancer - Retinoblastoma
Project Profile
Funding Organizations
Research Organizations
Research Activities
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Clinic & Pathology

France: Institut Curie Hospital

Retinoblastoma is a pediatric cancer that develops rapidly in the cells of the retina. One out of every 15 000 -20 000 children born has this condition. Most patients are diagnosed before the age of five years. In developed countries, patients have an excellent prognosis. However, in the majority of cases, an enculeation of the affected eye has to be performed.

The Curie Institute is the reference center for retinoblastoma study and treatment in France, and all French patients are sent to the Institute’s hospital.

5 Curie Institute Hospital departments work collaboratively to:

• Review pathological and genetic aspects of specimens to confirm accurate diagnosis
• Extract fresh tumor tissue for molecular analysis
• Perform quality control on fresh tissues to guarantee low percent necrosis and high percent tumor nuclei
• Perform histological analysis on all tumors collected
• Extract DNA and RNA from tumor samples
• Collect clinical information corresponding to each tumor
• Obtain patient consent for sequencing analyses

Sequencing & Analysis

France: Institut Curie

Exome sequencing is performed at the Curie Institute sequencing platform.

Complementary Studies

France: Institut Curie

We performed additional high-throughput analyses including SNP-CGH, transcriptome analyses and methyome profiling.

Data Storage, Analysis & Management

France: Institut Curie

Details to follow

Project Summary

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.

The long term aim of our studies will be to identify the additional events that lead to retinoblastoma, whether they be genetic, or epigenetic. We will start by searching for new somatic mutations in retinoblastoma. To do so, we will sequence the exomes of 33 tumors and their matched healthy blood samples. All identified mutations will then be further validated on an independent series of 42 specimens. To identify possible translocation events, RNAseq will also be performed on 12 samples. Finally, we will search for epigenetic events by comparing retinoblastoma and healthy retina methylomes.

Principal Investigators

• François Radvanyi

Lead Jurisdiction