Professor David Gonzalez de Castro
Queen’s University Belfast
Awarded: £23,749
Researchers have developed a new biomarker test that can detect changes in soft tissue sarcoma from small samples of tissue or blood.
Key findings
- Researchers developed a new biomarker test using technology called next generation sequencing (NGS). NGS can read thousands of pieces of genetic code at once, and helps to spot any changes in the genes.
- The test was effective. It could find unusual gene patterns called ‘fusion genes’ in 9 out of 10 tissue samples, and in half of all blood samples tested. Fusion genes happen when pieces of genes that are usually separate join together, which can lead to sarcoma developing.
- This is exciting because it could open up new possibilities for:
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- Earlier diagnosis
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- Less invasive testing
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- Monitoring how treatments are working
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What is a biomarker?
A biomarker is like a signpost in your body that doctors can measure. It can be found in your blood, other bodily fluids, or tissue samples. These signposts can tell us whether things in your body are working normally or if there might be a health problem, such as cancer.
These biomarkers are very useful because they can:
- Help doctors diagnose conditions
- Show how a disease might develop
- Tell doctors how well a treatment is working
For people with sarcoma, biomarkers have the potential to make a real difference. Finding specific biomarkers for different types of sarcoma could help doctors:
- Diagnose the cancer earlier
- Make diagnosis more accurate
- Tailor treatment plans to each patient
What the researchers did
The team aimed to test NGS as an approach to improve the diagnosis of patients with soft tissue sarcoma.
Using tissue and blood samples, they developed a test that successfully found genetic changes in 56 out of 60 sarcomas. Then, to make sure the test was reliable, they checked it again with samples from over 100 more patients.
The test successfully found unusual gene patterns called ‘fusion genes’ in 9 out of 10 tissue samples and half of all blood samples tested. When genes fuse together like this, they can become overactive and cause cells to grow out of control. This is what leads to tumours growing and spreading in the body.
This is the first test that can measure tiny pieces of tumour DNA found in blood (called circulating tumour DNA). This means doctors could potentially track how the cancer is changing by taking simple blood samples.
The team showed that this new way of testing for soft tissue sarcoma using next generation sequencing works well. Importantly, the test is practical and affordable enough to be used as part of regular hospital testing.
What this means for patients
The research results suggest that this could offer a quick and simple way to test for known genetic changes in soft tissue sarcoma. The test works with tissue samples that are already taken during normal diagnostic procedures, such as biopsies and surgical resections.
Like many other types of cancer – including bowel, lung, breast and blood cancers – doctors could track how sarcoma is responding by looking for tumour DNA in blood samples.
Next steps
The team wants to continue to make sure this test is reliable and accurate. Their goal is to make it available in hospitals across the UK and Europe to help doctors diagnose and monitor sarcoma.
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