Predicting high-risk rhabdomyosarcoma at diagnosis to improve outcomes for children and young people

Rhabdomyosarcoma is a type of cancer that children and adolescents can get. Whilst around two-thirds of young people with rhabdomyosarcoma survive, the toxic treatments often have long-lasting effects on quality of life. 

Doctors separate rhabdomyosarcoma patients into different risk groups so that they can give the right amount of treatment. This is based on where in the body the cancer is, it’s size, and whether the cancer cells have a fusion between genes called PAX3 or PAX7 and FOXO. However, there is currently no way to determine how at risk most patients are if they do not have one of these fusion genes. 

In this project, Professor Janet Shipley at The Institute of Cancer Research will look for a way to predict risk for PAX-FOXO1 fusion-negative rhabdomyosarcoma at diagnosis. Her research team has previously found evidence that tumours with low oxygen levels, few blood vessels, and high amounts of certain genes are linked to poorer outcomes. They have now identified biological markers representing these features which can be simultaneously tested in samples from patients that were used for diagnosis and are available for study.

The researchers will map the markers onto over 100 rhabdomyosarcoma tumour samples. The data from this, such as how the markers are distributed in the tumour and the amount, will be compared to patients’ responses to treatment. The team will be using state-of-the-art technology and AI to analyse this data and identify the best prognostic markers.

After validation, Professor Shipley plans to include the best markers in the current FaR-RMS clinical trial. She hopes that this work will go on to spare low-risk rhabdomyosarcoma patients unnecessary toxicity, and improve the treatment options for high-risk patients.