Innovative System Accurately Detects Genetic Mutations In The Brain Tumor Within 25 Minutes

A investigation squad successful Japan has developed an innovative strategy that tin accurately observe familial mutations successful nan encephalon tumor wrong conscionable 25 minutes. Genetic mutations are important markers for test of encephalon tumors.

Unlike accepted familial study methods, which typically return 1 to 2 days to get results, this caller strategy allows surgeons to place genotyping of encephalon tumors and find optimal resection margins during surgery.

The caller strategy succeeded successful detecting mutations successful isocitrate dehydrogenase (IDH) and telomerase reverse transcriptase (TERT) promoters. These mutations are cardinal markers for test of diffuse glioma-the astir communal type of encephalon tumor-which grounds highly infiltrative nature. The findings were published successful nan diary Neuro-Oncology.

The investigation squad astatine Nagoya University Graduate School of Medicine, led by researchers Sachi Maeda, Fumiharu Ohka, and Professor Ryuta Saito, developed this strategy to amended diagnostic accuracy during surgery.

The strategy utilizes nan GeneSoC® high-speed real-time PCR device, which incorporates microfluidic technology, successful operation pinch nan team's original protocol that enables high-quality DNA extraction utilizing only power incubation.

The researchers evaluated nan sensitivity and specificity of nan strategy successful 120 cases of encephalon tumors. They collected tumor insubstantial samples from patients and quickly extracted nan DNA. They besides assessed nan beingness of IDH1 and TERT promoter mutations, intraoperatively.

To verify nan accuracy of nan caller system, nan researchers compared its results pinch those obtained from a accepted DNA sequencing method called Sanger sequencing. While Sanger sequencing is wide utilized successful objective examinations and research, it usually takes 1 to 2 days to supply results, which makes it impractical for intraoperative genotyping.

The comparative verifications demonstrated that nan caller strategy exhibits precocious diagnostic accuracy, pinch 98.5% sensitivity and 98.2% specificity for discovery of IDH1 mutations, arsenic good arsenic 100% sensitivity and specificity for discovery of TERT promoter mutations.

The mean study clip per sample was 21.86 minutes for IDH1 mutations and 24.72 minutes for TERT promoter mutations. These findings demonstrated nan effectiveness of this caller strategy successful aiding real-time surgical decisions.

Next, nan researchers aimed to specify nan boundaries betwixt normal encephalon insubstantial and tumors during room by taking samples from aggregate areas wrong nan aforesaid diligent and checking for nan beingness of familial mutations astatine each site. This attack was based connected nan conception that identifying molecular abnormalities during room could thief surgeons find nan margins for tumor resection much accurately.

"This conception is particularly important for intraoperative decision-making for grade of tumor removal for those pinch IDH1 mutations, arsenic these mutations are recognized arsenic reliable markers for distinguishing tumor cells from surrounding normal encephalon cells," explained Maeda successful nan study. "If collected sample shows nary IDH1 mutations, it apt indicates that nan collected tract mightiness widen beyond nan tumor boundary." Subsequent pathological findings confirmed that their caller strategy accurately defines tumor boundaries.

Source:

Journal reference:

Maeda, S., et al. (2025). Rapid Intraoperative Genetic Analysis of Adult-type Diffuse Gliomas Using a Microfluidic Real-Time Polymerase Chain Reaction Device. Neuro-Oncology. doi.org/10.1093/neuonc/noaf188