Exploring the Feasibility of the Molecular Pathology Model of Patients With Glioma Via Retrospective Research

A total of 976 gliomas were enrolled in this study. First, in order to evaluate the diagnostic value of TERT promoter mutation in differ glioma subtypes, we conducted a retrospective cohort study included 753 frozen tissue samples of patients with different grades of glioma. According to WHO CNS5, all recommended alteration including IDH, 1p/19q, TERT, EGFRamp and 7+/10- were profiled using multiple approaches and a permanent diagnosis was obtained for each patient. Exploring the feasibility of the molecular pathology model of patients with glioma via retrospective research. Compare with the existing molecular pathology system, analyze the combination of IDH and TERT mutations and the feasibility of stratifying the prognosis of patients with glioma.

Moreover, to expend the application of the diagnostic algorithm to surgical practice, we developed a fast detection assay that could detect hotspot somatic mutations in IDH and TERT within 25 minutes and can discriminate TERT and IDH mutations from wild-type alleles with a minimum variant allele frequency (VAF) of 0.2% and 0.5%, respectively. We further validate the simplified diagnostic algorithm on frozen tissue of 223 patients with glioma in another retrospective cohort and performed this assay to evaluate the accuracy of the rapid assay.