Christopher’s Smile has agreed to fund a £60K proof of concept study to develop novel circulating biomarkers for childhood brain tumours. The project will last 1 year and has been awarded to the Institute of Cancer Research in Sutton. The ICR and Christopher’s Smile has an excellent record of developing molecular diagnostics with one test now standard of care and a liquid biopsy test awaiting approval.
Whilst it has been proven that liquid biopsies can be used to provide the genomic characteristics of tumours outside of the Central Nervous system (CNS), CNS tumours are still proving a significant challenge. The main reason is that the blood-brain barrier does a fantastic job of keeping foreign items in the bloodstream out of the brain but also prevents the vast majority of tumour cells and tumour DNA from joining the bloodstream. Therefore, very little brain tumour DNA or tumour cells are present in the bloodstream for detection. This project will look at two approaches for analysing tumour cells and tumour DNA in the bloodstream:
- Evaluation of circulating free extra-chromosomal circular CNA (cf-ecDNA)
- Evaluation of circulating tumour cell (CTC) detection
Approach 1. uses amplification of plasma cfDNA and it has already been proven that ecDNA is present in childhood tumours. This project will determine whether ecDNA exists in the plasma of children with CNS tumours.
Approach 2. uses Rarecells ISET technology to detect and characterise a single circulating tumour cell isolated from a 10ml blood sample.
If either or both approaches are successful a full-scale trial will be initiated with the aim of the development of a diagnostic that can be taken into standard of care as quickly as possible.
The overriding objective of this project is to provide a solution to the unmet need for a liquid biopsy diagnostic for childhood CNS tumours. If successful, children with inoperable CNS tumours or where surgery could be difficult or present a high risk can have their tumours characterised in order for their paediatric neuro-oncologists to decide upon the best course of treatment.