Epidemiological Study of Molecular and Genetic Classification in Adult Diffuse Glioma

Abstract

Background: Mutations in isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) are frequent in lowgrade and high-grade gliomas. However, the diagnostic criteria, in particular for gliomas, are highly various. The aim of our study was to establish genetic profiles for mutation and calcification of diffuse gliomas and to evaluate their predictive factors. Methods: We estimate the different clinical and molecular characterization between IDH1, IDH2 mutant gliomas, p53, ATRX and 1p19q. In addition, whole-transcriptome sequencing and DNA extraction data were used to evaluate the distribution of genetic changes in IDH1 and IDH2 mutant gliomas in a Iranian high grade glioma. Results: Between 2016-2019, among 53 gliomas in our study, 29 cases (54.7% %) harbored an IDH1,2 mutation, 21 cases (39.6 %) harbored an p53 mutation and 19 cases (35.8 %) harbored an ATRX. In addition, 1p19q co-deletion mutation was found in 7 cases (12.2%). We found that IDH1 and IDH2 are mutually entirely in gliomas. There was no significant relation between histopathology, tumor location and clinical finding with diagnosed mutations. Conclusion: Our study discloses an associated distinction between IDH1 and IDH2 mutant gliomas nearly in half of patients, followed by p53. These mutations should be reviewed separately because their differences could have indication for the diagnosis and treatment of IDH1/2 mutant gliomas.