Scientists at Massachusetts General Hospital have developed a tool that can detect additional mutations to help improve tumor diagnosis and monitoring. The scientists, who have in the past created a blood test to detect mutations in a glioma-linked gene, published their findings in “Clinical Cancer Research.” Gliomas are a common type of brain tumors that occur in adults.
This advancement offers clinicians a strong tool to help uncover the presence of gliomas through the detection of mRNA in a patient’s blood. mRNA are pieces of the genetic material of tumor cells.
Prior research was the first to highlight that this highly optimized digital droplet polymerase chain reaction (ddPCR) blood test could be used to detect and monitor the presence of two TERT gene mutations accurately. These mutations are often mutated in gliomas.
For their study, the researchers tailored their method to detect mRNA released from the EGFRvIII mutation, which is usually present in aggressive glioma tumors. EGFRvII is a mutated EGFR gene.
First, the researchers determined how common this mutation was in the tumor tissue obtained from 37 glioma samples then tested their liquid biopsy test in plasma samples obtained from 30 patients with EGFRvIII mutations in their glioma tissues. They identified 10 patients with tumors that had no EGFR mutations and 14 healthy controls.
The scientists discovered that their blood test had about 97% overall specificity and almost 73% sensitivity. Specificity refers to the potential to detect the absence of the EGFRvIII mutation while sensitivity refers to the ability to identify the presence of the aforementioned mutation.
Leonora Balaj, cosenior author of the study, stated that there was a need to make brain tumor diagnosis less invasive than tissue biopsy, which is the current diagnosis method used. A Harvard Medical School assistant professor of neurosurgery, Balaj explained that the study indicated that it was possible to diagnose brain tumors using a blood test. This technology may also be used to identify patients who would benefit most from medications that targeted EGFRvIII in cancer cells.
Bob S. Carter, the study’s cosenior author, argued that this blood-based assay could also be used to find patients eligible for clinical trials. Carter, who is also the chair of the Massachusetts General Hospital’s Department of Neurosurgery, noted that the assay could monitor responses to therapies.
However, the researchers also noted that their TERT and EGFR tests require more research to assess how they perform in bigger groups of patients.
As these researchers are working on the diagnostic side of things, other teams at companies such as CNS Pharmaceuticals Inc. (NASDAQ: CNSP) are engaged in searching for better therapeutics so that patients can enjoy better clinical outcomes once they are diagnosed with these tumors and begin treatment.
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