Rapid Intraoperative Molecular Characterization of Glioma

摘要: Importance Conclusive intraoperative pathologic confirmation of diffuse infiltrative glioma guides the decision to pursue definitive neurosurgical resection. Establishing diagnosis by histologic analysis can be difficult in low-cellularity gliomas. Therefore, we developed a rapid and sensitive genotyping assay detect somatic single-nucleotide variants telomerase reverse transcriptase ( TERT ) promoter isocitrate dehydrogenase 1 IDH1 ). Observations This was applied tissue samples from 190 patients with gliomas, including archived fixed frozen specimens obtained intraoperatively. Results demonstrated 96% sensitivity (95% CI, 90%-99%) 100% specificity 95%-100%) for World Health Organization grades II III In series live cases, glioma-defining mutations could identified within 60 minutes, which facilitate an timeframe. Conclusions Relevance The method described herein establish tumors like adapted point-of-care other lesions that are similarly defined highly recurrent mutations.