Application of Intraoperative Rapid Molecular Diagnosis in Precision Surgery for Glioma: Mimic the World Health Organization CNS5 Integrated Diagnosis

Abstract

BACKGROUND:With the advent of the molecular era, the diagnosis and treatment systems of glioma have also changed. A single histological type cannot be used for prognosis grade. Only by combining molecular diagnosis can precision medicine be realized.OBJECTIVE:To develop an automatic integrated gene detection system (AIGS) for intraoperative detection in glioma and to explore its positive role in intraoperative diagnosis and treatment.METHODS:We analyzed the isocitrate dehydrogenase 1 (IDH1) mutation status of 105 glioma samples and evaluated the product's potential value for diagnosis; 37 glioma samples were detected intraoperatively to evaluate the feasibility of using the product in an actual situation. A blinding method was used to evaluate the effect of the detection technology on the accuracy of intraoperative histopathological diagnosis by pathologists. We also reviewed the current research status in the field of intraoperative molecular diagnosis.RESULTS:Compared with next-generation sequencing, the accuracy of AIGS in detecting IDH1 was 100% for 105 samples and 37 intraoperative samples. The blind diagnostic results were compared between the 2 groups, and the molecular information provided by AIGS increased the intraoperative diagnostic accuracy of glioma by 16.2%. Using the technical advantages of multipoint synchronous detection, we determined the tumor molecular margins for 5 IDH-positive patients and achieved accurate resection at the molecular level.CONCLUSION:AIGS can quickly and accurately provide molecular information during surgery. This methodology not only improves the accuracy of intraoperative pathological diagnosis but also provides an important molecular basis for determining tumor margins to facilitate precision surgery.

The first prospective application of AIGS real-time fluorescence PCR in precise diagnosis and treatment of meningioma: Case report

“…In the preliminary study (Chinese Clinical Trial Registry: ChiCTR2100048172), we have evaluated the sensitivity, specificity, and accuracy of the detection technology, and the detection results are completely consistent with the results of the NGS. It can complete the automatic interpretation of the results within 1 h, and the accuracy rate is up to 100%,which can be applied in the operation ( Xue et al, 2022 ). In our case, it is precisely because of the TERTp mutation information provided by AIGS that we can diagnose WHO grade 3 meningioma during operation.…”

Advances in Diagnostic Tools and Therapeutic Approaches for Gliomas: A Comprehensive Review

“…It is important to note that, while only 12% of glioma patients carry the IDH mutation, discovered after genomic analysis, those with the IDH mutation tend to have a more favorable survival prognosis. Raman analysis reveals distinctive differences in the spectral features of scattered light from various cellular components, including lipids, collagen, DNA, cholesterol, and phospholipids [ 99 , 100 ]. Notably, a study involving 38 unprocessed samples, comprising a total of 2073 Raman spectra, demonstrated the potential of RS to differentiate between IDH-mutant (IDH-MUT) and IDH-wildtype (IDH-WT) gliomas with an accuracy and precision of 87%.…”

Molecular Biomarkers and Recent Liquid Biopsy Testing Progress: A Review of the Application of Biosensors for the Diagnosis of Gliomas

“…Reagents for nucleic acid purification and qRT-PCR amplification were placed in the cartridges in advance, as reported by Hao Xue et al AIGS real-time fluorescence integrates nucleic acid extraction and real-time gene amplification detection, and achieves a fully closed automatic output from samples to genes in the form of a microfluidic card slot. Compared with next-generation sequencing, AIGS has high accuracy in showing results and is a quick and accurate methodology for providing molecular information during surgery [8].…”