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mutation du promoteur de TERT (C228T / C250T)

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IDBIO-TERT
TypeBiomarqueur
Alias
mutation du promoteur de TERTМутація промотора TERT (C228T / C250T)
Étatreviewed 2026-05-04 | pending_clinical_signoff
MaladiesDIS-GBM DIS-THYROID-PAPILLARY
SourcesSRC-ATA-THYROID-2015 SRC-NCCN-CNS-2025 SRC-NCCN-THYROID-2025

Données biomarqueurs

Type de biomarqueurgene_mutation
Détails de la mutation{"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)"}
Mesure
MéthodeTumor NGS (must cover TERT promoter — not included in all standard exome panels; requires specific design) or dedicated Sanger/ddPCR assay
Recherche de la faisabilité{"gene": "TERT", "variant":"promoter_mutation"}
Biomarqueurs connexesBIO-BRAF-V600E BIO-CDKN2A

Notes

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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Biomarqueur