Abstract
TERT promoter (p) C228T/C250T mutations, which are associated with increased TERT expression, and MGMTp methylation, which is associated with decreased MGMT expression, are biomarkers in brain tumors. Herein, we explore the utility of RNA sequencing (RNAseq) for TERT and MGMT evaluation by correlating RNAseq TERT and MGMT expression with TERTp mutations and MGMTp methylation status in brain tumors. Cases included 16 adult tumors: 13 with an integrated diagnosis of glioblastoma (12 IDH-wildtype and 1 IDH-mutant), and 3 fusion-positive non-glioblastoma (supratentorial ependymoma, astroblastoma and low-grade glioma).
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