TERT promoter mutations (C228T or C250T) occur in ~10–15% of papillary thyroid cancer (PT...
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| ID | BMA-TERT-THYROID |
|---|---|
| Тип | Клінічна застосовність |
| Статус | переглянуто 2026-05-04 | очікує клінічного підпису | потрібне рев’ю клінічної застосовності |
| Хвороби | DIS-THYROID-PAPILLARY |
| Джерела | SRC-ATA-THYROID-2015 SRC-NCCN-THYROID-2025 |
Дані про клінічну застосовність
| Біомаркер | BIO-TERT |
|---|---|
| Варіант | TERT promoter mutation (C228T or C250T) in papillary or follicular thyroid carcinoma — adverse prognostic marker; synergistic mortality risk when co-occurring with BRAF V600E |
| Хвороба | DIS-THYROID-PAPILLARY |
| Рівень ESCAT | IIB |
| Рекомендовані комбінації | Radioactive iodine (RAI) — intensified dosing strategy for TERT+BRAF double-positive PTC (consider 150–200 mCi therapeutic dose with TSH stimulation for high-risk features), lenvatinib 24 mg PO QD — for RAI-refractory differentiated thyroid cancer (SELECT trial; FDA 2015); TERT mutation predicts RAI-refractoriness; not TERT-specific approval, sorafenib 400 mg PO BID — RAI-refractory DTC (DECISION trial; FDA 2013; alternative to lenvatinib) |
| Підсумок доказів | TERT promoter mutations (C228T or C250T) occur in ~10–15% of papillary thyroid cancer (PTC) and ~15–20% of follicular thyroid cancer (FTC). TERT mutation is a strong adverse prognostic marker in differentiated thyroid cancer. Key evidence: Xing et al. (NEJM 2014 correspondence / JAMA Oncol): BRAF V600E + TERT promoter mutation creates a synergistic mortality risk — patients with both mutations have ~40× higher disease-specific mortality vs those with neither (BRAF+TERT double-positive: ~68% 10-yr mortality vs ~2% wild-type). TERT alone or BRAF alone: intermediate risk. ATA 2015 guidelines incorporate BRAF V600E as a risk-stratification factor; ESMO/NCCN 2025 updates recommend TERT testing alongside BRAF to identify the highest-risk PTC subgroup. Therapeutic implication: TERT-mutant/BRAF-mutant PTC should receive more aggressive radioiodine (RAI) therapy and enhanced surveillance. RAI-refractory TERT/BRAF-double- mutant PTC may benefit from kinase inhibitors (sorafenib, lenvatinib). No TERT-specific inhibitor approved for thyroid cancer. ESCAT IIB: established prognostic biomarker; n... |
Нотатки
ESCAT IIB: TERT promoter mutation is a validated adverse prognostic marker in differentiated thyroid cancer; it modulates treatment intensity (more aggressive RAI, enhanced surveillance) rather than selecting a targeted drug. TERT testing is NOT universally standard of care yet but is increasingly incorporated in high-risk PTC workup. Practical implementation: TERT testing should be performed in PTC with any of these features: T3/T4, N1b, M1, large tumor, extrathyroidal extension, multifocal disease, or aggressive histology (tall cell, columnar cell, diffuse sclerosing variants). If TERT+ and BRAF+: classify as highest risk; consider intensified RAI and kinase inhibitor planning if RAI-refractory. If TERT-/BRAF+: intermediate risk per ATA. Note: TERT promoter sequencing requires specific panel design — many standard targeted NGS panels do NOT cover the TERT promoter; verify panel before ordering.
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