Research we have funded
Liquid biopsies and minimal residual disease measurements for the management of Malignant Rhabdoid Tumours and other SMARCB1 mutated tumours.
Led by: Dr Daniel Williamson, Newcastle University
Award: £100,000
Funded in collaboration with LoveOliver, Scottish charity.
Date: May 2022
Research Project:
DNA from tumours can be detected in the biological fluids (i.e. blood, spinal fluid) of patients. This so called “liquid biopsy” allows sampling of tumour biology in a less invasive and more routine way. Malignant rhabdoid tumours are frequently lethal tumours of early childhood which occur anywhere in the body but most frequently in the brain and kidney. Almost every malignant rhabdoid tumour has a mutation of one of two genes, SMARCB1 and SMARCA4. Other tumours such as Epithelioid Sarcomas also possess these characteristic mutations.
This mutation is key to driving the tumour cells aggressive behaviour and we anticipate that tumour DNA bearing these characteristic mutations can be detected and quantified in biological fluids sampled from patients with these tumours. This should mean that the amount of circulating tumour cells present in a patient can be estimated and these measures used to track the progress of a patient during treatment. This should help clinicians to monitor a patient’s response to therapy in real time. These measures could also be used to monitor patients who are in remission and anticipate early if they are likely to relapse again.
The aim of this project is first to test and optimise the best technique to detect this circulating tumour DNA. Once this is established, we will roll this out to a “real-world” set of malignant rhabdoid tumour and epithelioid sarcoma patients and sample their biological fluids at relevant points throughout their treatment. By doing so we will determine not only the best way to detect circulating tumour DNA in these patients but also whether measures of circulating tumour DNA can monitor and predict treatment success.
This has the potential to provide an important tool for clinicians to manage treatment of these patients. If successful, we would anticipate these techniques being rolled out to ongoing clinical trials for testing in even larger numbers of patients and to bring these techniques into common clinical practice.
