Abstract

BACKGROUNDS

Based on the comprehensive gene association studies in recent years, the revision was issued in 2016 WHO classification, integrating genetic information in glioma diagnosis. Many studies have been reported the correlation between each molecular subtype and prognosis in the new classification. Gliomas surgery is required to maximum tumor resection with functional preservation. Currently, our institute decides a surgical strategy based on the morphological diagnosis and genetic information from the obtained tissue during the operation. We evaluated the IDH 1/2 gene mutations and 1p/19q codeletion by using real-time PCR intraoperatively. We report the usefulness of this method in this presentation.

OBJECTIVE

58 specimens obtained during surgery from March to November 2017, IDH 1/2 gene mutations and 1p/19q codeletion were evaluated intraoperatively by real-time PCR. IDH 1/2 gene mutations were detected using HRM, and SNP genotyping was used for TERT promoter mutations expected as a surrogate marker for 1p/19q codeletion.

RESULT

Each gene mutation was detected in approximately 90 minutes from DNA extraction of obtained surgical tissue to analysis. The accuracy of HRM of IDH 1/2 mutations was 97.3% (72/74 cases) evaluated by the result of IDH1-R132H IHC or Sanger sequencing, and SNP genotyping of TERT promoter mutations was 94.3% (50/53 cases). There was almost no difference from final genetic information.

CONCLUSION

Real-time PCR is feasible as an intraoperative molecular diagnosis. The accuracy of diagnosis is very high and it can be evaluated in a short time, so it’s useful for decision making during operation.

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