New Technique Detects Genetic Mutations in Brain Tumors During Surgery within 25 Minutes

Determining the genetic profile of brain tumors during surgery is crucial for improving patient outcomes, but conventional analysis methods can take up to two days, delaying critical decisions. Surgeons often operate without real-time molecular data, making it difficult to identify tumor boundaries or tailor the extent of removal. Now, a new genetic testing system enables the detection of key brain tumor mutations in as little as 25 minutes, allowing immediate guidance during surgery.

Developed by researchers at Nagoya University (Nagoya, Japan), the system uses the GeneSoC high-speed real-time PCR device, which incorporates advanced microfluidic technology. The team designed an original protocol enabling high-quality DNA extraction using only heat incubation, eliminating lengthy preparation steps. This combination allows for ultra-fast, on-site genetic testing directly from tumor samples collected during surgery.

Image: The new system allows surgeons to identify genotyping of brain tumors and determine optimal resection margins during surgery (Photo courtesy of Nagoya University)

The system was tested on 120 cases of brain tumors to detect mutations in isocitrate dehydrogenase (IDH1) and telomerase reverse transcriptase (TERT) promoters—key diagnostic markers for diffuse glioma. Results showed remarkable accuracy, with 98.5% sensitivity and 98.2% specificity for IDH1, and 100% for TERT mutation detection. The average testing time per sample was just 22−25 minutes, as reported in Neuro-Oncology.

By identifying genetic mutations intraoperatively, surgeons can more precisely define tumor margins and distinguish cancerous tissue from normal brain cells. This approach could improve surgical outcomes by maximizing tumor removal while minimizing damage to healthy tissue. The researchers also confirmed that the system accurately defines tumor boundaries, a critical step for surgical decision-making.

“We demonstrated that our genetic analysis system enables molecular diagnosis during surgery. This system identifies tumor boundaries, helping surgeons define resection margins. This marks a significant clinical achievement,” said researcher Sachi Maeda. “Notably, our system's ability to intraoperatively identify TERT promoter mutations—which cannot be detected through immunostaining—represents a groundbreaking advancement globally. We believe this technology will significantly enhance the precision of glioma surgery in the near future.”

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Nagoya University