Innovative System Detects Brain Tumor Genetic Mutations During Surgery in Under 25 Minutes

A groundbreaking development from researchers in Japan has introduced a high-speed diagnostic system capable of identifying genetic mutations within brain tumors during surgical procedures in approximately 25 minutes. This advancement significantly surpasses traditional methods, which can take one to two days to deliver results, and offers surgeons real-time insights crucial for precise tumor removal.

Genetic mutations like IDH1 and TERT promoter alterations are vital markers in diagnosing diffuse gliomas—the most prevalent and infiltrative form of brain tumor. The new system leverages the GeneSoC microfluidic real-time PCR device, which allows rapid DNA analysis by employing heat incubation for efficient DNA extraction, combined with a unique protocol developed by the team.

In their study, the researchers evaluated the system's accuracy in 120 brain tumor cases. They quickly extracted DNA from tumor tissues and tested for the presence of specific mutations intraoperatively. Results showed high diagnostic accuracy, with close to 99% sensitivity and specificity for IDH1 mutations, and perfect detection rates for TERT promoter mutations. Average analysis times were roughly 22 minutes for IDH1 and 25 minutes for TERT, facilitating immediate surgical decision-making.

A key aspect of this technology is its ability to define tumor boundaries more precisely. By analyzing samples from different areas within the same brain, the system helps distinguish tumor tissue from normal brain matter, guiding surgeons towards more accurate resection margins. This approach is especially valuable for mutations like IDH1, which serve as reliable markers for tumor cells, enabling surgeons to determine when they have achieved complete tumor removal.

Professor Ryuta Saito and his team highlight that this system marks a significant step forward in intraoperative diagnostics. Unlike immunostaining methods, TERT mutation detection can now be performed during surgery, enhancing the surgeon's ability to decide the extent of resection. The technology promises to improve surgical outcomes by facilitating more accurate and complete tumor removal, ultimately contributing to better prognosis for patients with gliomas.

Published in Neuro-Oncology, this research demonstrates the potential of integrating rapid genetic testing into surgical workflows. The team envisions that this system will not only streamline intraoperative decision-making but also pave the way for personalized treatment strategies based on molecular profiles of individual tumors.