TERT promoter mutation
Also written as: TERT — telomerase reverse transcriptase
A genetic alteration in the telomerase reverse transcriptase promoter region, commonly found in gliomas and associated with poor prognosis.
Full Definition
TERT promoter mutations are genetic alterations occurring in the promoter region of the telomerase reverse transcriptase (TERT) gene, which regulates telomerase activity and cellular immortalization. These mutations are frequently identified in gliomas, particularly glioblastomas and oligodendrogliomas, where they serve as important prognostic biomarkers. The presence of TERT promoter mutations is associated with more aggressive tumor behavior and shorter overall survival. In the context of the 2016 WHO classification, TERT promoter mutation status is used alongside IDH mutation status to further stratify glioma subtypes and guide treatment decisions.
Usage
Usage note: Often reported alongside other molecular markers; critical for modern glioma classification.
In Context
- "Molecular analysis revealed TERT promoter mutation C228T, supporting the diagnosis of IDH-wildtype glioblastoma." — Molecular pathology report
- "The combination of IDH-wildtype status and TERT promoter mutation indicates a particularly aggressive tumor subtype." — Tumor board discussion