A new liquid biopsy test using artificial intelligence models could help spot a rare type of bone and soft tissue cancer that predominantly affects children and adolescents.
The test is being developed by researchers funded by British charity Cancer Research UK for Ewing sarcoma, a rare cancer with a high risk of spreading that can evade modern scanning techniques.
It predominantly affects children and adolescents aged 10 to 20 and has a high mortality rate. The ability to test for the disease and monitor patients is important to identify cancer before it metastasizes or returns after treatment.
Currently, surgical biopsy, imaging studies such as MRI, CT and PET scans, along with blood tests, are used to detect and monitor the cancer, but these methods can still miss tumors.
Researchers at the Cancer Research UK National Biomarker Centre now believe they have a more sensitive blood test that may offer a less invasive way to detect the disease.
Working with pediatric and young adult cancer researcher Martin McCabe at the University of Manchester, the team examined blood samples from 26 children and young adults with Ewing sarcoma in search of DNA fragments released by cancer cells into the bloodstream.
Using AI models, researchers identified patterns in those DNA fragments that could signal relapse in Ewing sarcoma patients, potentially earlier than current imaging methods.
The blood test uses a machine learning model called EwingSign to identify patterns in DNA fragments rather than single mutations. By reading these tumor “fingerprints,” it can distinguish cancer DNA from normal DNA.
In the study, the test detected signs of cancer in 15 of the 18 patients whose disease had already returned. Testing remains in its early stages, and larger studies will be needed to determine whether the model can fulfill its promise.
“Our study highlights the growing potential of advanced biomarker science, combined with machine learning, to detect cancers that were previously hard to track in the bloodstream,” said Florent Mouliere, Ph.D., the study lead at the center, in a release.
“This is our first liquid biopsy development for children’s cancers, and we are delighted to have made this contribution to such an important area of research and what is a priority for Cancer Research UK.”