A HR-NBL2 assoicated biological study to link gentic studies performed at diagnosis and relapse with serial circulating tumour DNA (ctDNA) profiling
1) What is this research about?
This research is focused on high-risk neuroblastoma, an aggressive childhood cancer that often spreads and is difficult to treat. The study aims to understand how the cancer changes over time by analysing genetic information from both tumour samples and tiny fragments of tumour DNA found in the blood, known as circulating tumour DNA (ctDNA). By studying these changes at diagnosis, during treatment, and at relapse, researchers hope to identify which genetic features are linked to treatment success or resistance.
2) Why is it important?
Currently, all children with high-risk neuroblastoma recieve very intensive treatments, but not all patients respond in the same way. Some children relapse or become resistant to therapy, and doctors currently have limited tools to predict who will respond well. Understanding the gentic changes that drive treatment resistance could allow doctors to tailor therapies to each child, improve survival rates, and reduce unnecessary side effects from ineffective treatments.
3) what are the researchers doing?
Researchers will analyse tumour tissue collected at diagnosis and at relapse, alongside multiple blood samples collected during treatment from 400 children taking part in an international clinical trial (HR-NBL2). Using advanced sequencing technologies, they will track genetic changes in the cancer by studying ctDNA in the blood. This approach allows them to detect aggressive cancer cells that may not be captured in a traditional tumour biopsy. They will also study how the cancer keeps growing by investigating telomere maintenance mechanisms, features that cancer cells use to become "immortal."
4) How could this help patients in the future?
This research could lead to significant breakthroughs in how high-risk neuroblastoma is treated. By identifying the gentic markers linked to treatment resistance, doctors may be able to predict which therapies are most likely to work for each patient. This could enable more personalised, effective treatement plans, earlier detection of relapse, and new targeted therapies. Ultimately, the goal is to increase survival rates and improve the quality of life for children with high-risk neuroblastoma.