Developing safer, less invasive tests to diagnose and treat eye cancer in children

21 April 22

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Researchers are carrying out a ground-breaking diagnosis technique into the most common form of eye cancer in children under the age of 3.

The team at Birmingham Children's Hospital and the Royal London Hospital, jointly funded by Fight for Sight and the Childhood Eye Cancer Trust, are investigating how to use genetic information to develop a safer and less invasive test to diagnose and treat retinoblastoma in young patients.

The test examines a sample of fluid from the patient’s eye, which contains DNA from the tumour and compares it with DNA from their blood.

Since the start of the project in August 2021, the team has re-designed their test to not only assess the affected gene (RB1) but also additional areas in the genome, which have been associated with a more aggressive form of the disease. Looking at these areas could help doctors decide which type of treatment is best for the patient.

The study could also help identify the type of retinoblastoma a patient has developed and could determine the risk of second cancers in the patient - as well as the risk to other family members - allowing for quicker diagnosis and the ability to prioritise more urgent cases.

““We are incredibly excited about this new development in the project. Our technique will help diagnose our young patients and provide much more information about their condition and enable us to more accurately determine the best treatments.””

-Dr Amy Gerrish

What does the study hope to achieve? 

Retinoblastoma affects 1 in 20,000 children, with most cases caused by mutations in the RB1 gene. The condition can be inherited or occur spontaneously. In the majority of cases, retinoblastoma is treated successfully. Previously, this was mainly by removing the affected eye. However, with new chemotherapy treatments, more and more eyes are now saved.

While this is a great advance for patients, it means a sample of the tumour DNA is often not available which is needed to make a genetic diagnosis. Research is therefore urgently needed to develop new ways to diagnose retinoblastoma and choose the best treatment that could ultimately help save children’s sight.

The study, led by Dr Amy Gerrish, will investigate if fluid inside the eye could be used instead of a tumour biopsy to identify the type of gene variant causing retinoblastoma.

The team – a worldwide leader in the analysis of eye fluid as a liquid biopsy for retinoblastoma - also hope that they can help determine which type of available treatment is best for patients from detecting what specific variants their tumour has. This aims to increase the success of treatment to ultimately improve their quality of life.