10179- STMO-11 ESTABLISHMENT OF INTRA-OPERATIVE RAPID GENOTYPING SYSTEM AS A NOVEL MODALITY FOR ADULT-TYPE DIFFUSE GLIOMA REMOVAL

Abstract Genetic abnormalities such as IDH, TERT promoter, and CDKN2A play a critical role in diagnosing adult-type diffuse gliomas. Intraoperative genetic diagnosis offers a strategic advantage by informing surgical decisions based on accurate genetic information. Recent findings suggest that the presence or absence of these molecular abnormalities could differentiate tumor cells from normal brain tissue, potentially guiding intraoperative margin assessments where the boundary with normal tissue is unclear. This study explores a rapid intraoperative genetic diagnostic method using the GeneSoC system, which performs 50 cycles of quantitative PCR in approximately 15 minutes. We targeted IDH1 R132H, TERT promoter mutations, and CDKN2A homozygous deletions (HD) for analysis. Primers and probes were carefully designed, and PCR conditions were optimized to establish a reliable diagnostic method. DNA was extracted by boiling tumor specimens for 5 minutes, followed by genetic analysis using the GeneSoC system. The entire process, from specimen collection to result, took about 20 minutes. We analyzed 111 glioma specimens for IDH1 R132H and TERT promoter mutations, and 50 specimens for CDKN2A HD. The sensitivity and specificity of the GeneSoC system were 98% and 98% for IDH1 R132H, 100% and 100% for TERT promoter mutations, and 100% and 83% for CDKN2A HD, respectively. Our study successfully established a rapid intraoperative genetic diagnostic method using the compact and high-speed GeneSoC system. The genetic analysis aligned with MRI FLAIR imaging findings, confirming IDH mutations in high-signal regions but not in adjacent iso-signal regions. Although further case studies are needed, integrating genetic diagnosis with imaging could enhance intraoperative margin assessments, positioning this method as a promising new modality in brain tumor surgery.