TERT promoter mutation
Pronunciation: TERT pro-moter
Genetic alteration in the telomerase reverse transcriptase promoter region, with diagnostic and prognostic implications in brain tumors.
Full Definition
A mutation occurring in the promoter region of the telomerase reverse transcriptase gene, which leads to increased TERT expression and telomerase activity in tumor cells. In neuropathology, TERT promoter mutations are commonly found in IDH wild-type glioblastomas and IDH-mutant, 1p/19q-codeleted oligodendrogliomas. The presence of this mutation helps distinguish between different molecular subgroups of gliomas and has prognostic significance, particularly when combined with other molecular markers in integrated diagnosis.
Usage
Usage note: Specify C228T or C250T variants when known; commonly abbreviated as TERTp.
In Context
- "TERT promoter mutation was detected, supporting the molecular diagnosis of oligodendroglioma." — Integrated molecular report
- "The combination of IDH mutation and TERT promoter mutation indicated favorable prognosis." — Prognostic assessment