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TERT promoter mutation (C228T / C250T)

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IDBIO-TERT
TipoBiomarcador
Aliaces
Mutación del promotor de TERTМутація промотора TERT (C228T / C250T)
Situaciónreviewed 2026-05-04 | pending_clinical_signoff
EnfermedadesDIS-GBM DIS-THYROID-PAPILLARY
FuentesSRC-ATA-THYROID-2015 SRC-NCCN-CNS-2025 SRC-NCCN-THYROID-2025

Datos sobre biomarcadores

Tipo de biomarcadorgene_mutation
Detalles de la mutación{"exon": "promoter region (non-coding; chr5:1,295,228 C>T and chr5:1,295,250 C>T)", "functional_impact": "activating", "gene": "TERT", "variant_type": "promoter gain-of-function mutation (creates de novo ETS transcription factor binding sites)"}
Medición
MétodoTumor NGS (must cover TERT promoter — not included in all standard exome panels; requires specific design) or dedicated Sanger/ddPCR assay
Consulta de la capacidad de acción{"gene": "TERT", "variant": "promoter_mutation"}
Productos químicos y químicosBIO-BRAF-V600E BIO-CDKN2A

Notas

TERT (Telomerase Reverse Transcriptase) is the catalytic subunit of telomerase. TERT promoter mutations (C228T or C250T, by chr5 coordinates) create de novo ETS family transcription factor binding sites, increasing TERT transcription and telomerase activity, extending cellular lifespan and enabling replicative immortality. Key clinical contexts: (1) Papillary thyroid cancer (PTC): TERT promoter mutations (~10–15% of PTC) are adverse prognostic markers, particularly when co-occurring with BRAF V600E (~8–12% of PTC). BRAF V600E + TERT promoter → mortality risk ~40× vs wild-type (Xing et al. NEJM 2014); this combination stratifies high-risk PTC requiring aggressive RAI and surveillance. (2) Follicular thyroid cancer: TERT mutations in ~15–20%. (3) GBM: TERT promoter mutations in ~70–80% (often co-occurring with EGFR amplification or IDH wild-type — defines molecular IDH-wild-type GBM). TERT mutation in IDH-wild-type astrocytoma with EGFR amplification or +7/-10 → WHO grade 4 GBM (CNS WHO 2021). (4) Oligodendroglioma: IDH mutation + 1p/19q codeletion + TERT mutation = canonical molecular definition of oligodendroglioma (WHO CNS 5th ed). (5) Bladder cancer: TERT promoter mutations in ~...

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