Retinoblastoma is a malignant tumor that grows in the retina, the layer of light-sensitive tissue at the back of the eye. This tumor forms from immature cells in the retina called “developing retinal cells”.
Retinoblastoma is a cancer that mainly affects young children, usually before the age of 5 (5% of cases are diagnosed in children over 5). According to estimates, approximately 50 to 60 new cases of retinoblastoma are diagnosed each year in France. Retinoblastoma accounts for approximately 2% of pediatric cancers.
Symptoms of retinoblastoma may include strabismus, white or shiny eye, dilated pupil, blurred vision, or loss of vision. If you notice any of these symptoms in your child, it is important to see an eye doctor quickly.
Treatment for retinoblastoma depends on the size, location, and spread of the tumor. Treatment options may include surgery, radiation therapy, chemotherapy, or a combination of these methods. The prognosis for children with retinoblastoma also depends on the extent of the disease and how quickly it is diagnosed and treated.
WHAT CAUSES RETINOBLASTOMA?
Retinoblastoma is caused by a genetic mutation that affects the cells of the retina. This mutation can be either inherited or non-hereditary (sporadic).
- In the case of hereditary forms of retinoblastoma, the gene responsible for the tumor is transmitted from parent to child. This gene is called the RB1 gene and it is responsible for regulating cell growth in the retina. If a mutation occurs in this gene, it can lead to the formation of tumors in the retina.
- Non-hereditary forms of retinoblastoma are caused by a spontaneous genetic mutation that occurs during retinal growth. These mutations are not passed from parent to child and can occur randomly.
It is important to note that retinoblastoma is a rare cancer and most cases are not hereditary. However, if a family member has already been diagnosed with retinoblastoma, children in that family may be more likely to develop this type of cancer. It is recommended that a genetic counselor be consulted to discuss the risks and screening options for affected families.
HOW TO TREAT THIS TYPE OF CANCER?
It is important to note that retinoblastoma can be successfully treated if diagnosed early and given proper treatment. This is why it is essential for parents to monitor the eye health of their children and consult an ophthalmologist if they notice symptoms such as strabismus or a white eye.
Treatment for retinoblastoma depends on several factors, such as the size, location, and spread of the tumor, as well as the age and health of the child. Treatment options may include:
- Surgery which is often used to remove small tumors or to remove the affected eye (enucleation) if the tumor is too large or has spread to other parts of the eye.
- Radiation therapy which uses x-rays or other forms of radiation to kill cancer cells. This method is often used to treat tumors that cannot be surgically removed.
- Chemotherapy which uses drugs to treat cancer cells. It can be given intravenously, orally or directly into the affected eye (intra-arterial chemotherapy).
- Thermotherapy which uses heat to destroy cancer cells. This method is often used in combination with other treatments, such as chemotherapy or radiation therapy.
In some cases, a combination of these methods can be used to treat retinoblastoma. The choice of treatment will depend on the type and size of the tumour, the child’s age and general health.
It is important to note that treatments for retinoblastoma can affect a child’s vision. However, with early intervention and proper treatment, many children with retinoblastoma can retain functional vision and have good outcomes.
COBIORB, A RESEARCH PROGRAM FUNDED BY IMAGINE FOR MARGO TO IMPROVE THE TREATMENT OF RETINOBLASTOMA
In 2023, the Imagine for Margo association financed, thanks to the Children without Cancer City race and the Rallye du Coeur de Paris, the CoBioRB program of the Fight Kids Cancer call for projects. The latter aims at determining genetic biomarkers to improve risk-stratified treatment in retinoblastoma.
The main challenge is to identify children at risk of metastasis. Risk stratification is essential to reduce treatment and minimize late toxicity in low-risk children, while allowing intensification of treatment for higher-risk children.
In this project, the genetic and genomic characteristics of retinoblastoma subtypes will be characterized in order to identify biomarkers for the treatment of metastases. The results will be correlated with the clinical course. These biomarkers could help identify patients at risk of metastasis to reduce late effects of treatment in others.
CoBioRB lays the foundation for a pan-European “EURBG2” clinical trial of biomarkers for risk stratification of adjuvant therapy for retinoblastoma.
To learn more about the CoBioRB program, click here.
To help us finance research against childhood cancer, you can make a donation directly to the association.
