Dr. Dimitrios Mathios, in collaboration with Johns Hopkins Kimmel Cancer Center, has developed an innovative blood test that has the potential to transform early brain cancer detection.
This approach identifies DNA fragments from both tumors and immune cells in blood samples, potentially leading to earlier diagnoses.
The study, published on April 29 in Cancer Discovery and partially funded by the National Institutes of Health, highlights a significant advancement in overcoming the challenges of detecting brain cancer at early stages.
Dr. Mathios, and Dr. Victor E. Velculescu, co-director of cancer genetics at Johns Hopkins, teamed up to develop a “next generation” blood-based liquid biopsy. This technique, which has already shown success in lung cancer detection, uses machine learning to analyze circulating DNA patterns associated with brain tumors and identifies repeating genomic patterns linked to the disease.
Detecting brain cancer before symptoms appear is challenging, often leading to diagnoses at more advanced stages when tumors are larger and located in high-risk areas. This complicates treatment, making it both riskier and less effective. The blood-brain barrier, while protecting the brain, also prevents biomarkers from entering the bloodstream, further complicating early detection.
The team successfully detected brain cancer in approximately 75% of cases from a cohort of 505 patients in the U.S. and South Korea and validated their results in a separate group of 95 patients in Poland. In contrast, traditional blood-based liquid biopsy methods have detected brain cancer in fewer than 10% of cases.
A key factor in this success is the detection of immune system changes associated with brain cancer. Brain cancer often leads to immune suppression and alters the immune cell profile in the blood. These immune changes occur throughout the body, bypassing the blood-brain barrier and making them detectable, according to Dr. Mathios, the study’s lead author.
“We now have a method that detects brain cancer based on its unique characteristics, including DNA fragmentation and immune responses,” says Dr. Mathios. “The signals we detect come from both the tumor itself and the immune system’s reaction to it.”
In a simulation, the researchers modeled the potential benefits of using their method to screen the 10 million patients who visit emergency rooms or primary care clinics annually due to headaches. Normally, these patients are only referred for brain imaging if a physician suspects a problem. However, the simulation showed that incorporating blood-based liquid biopsy results could help identify nearly 1,700 additional cancer cases.
The next step for the team is to conduct a larger prospective trial to confirm these findings in a broader population at higher risk for brain cancer
To read the research article click here