Disease-Specific and Histological Outcomes of Preoperative TERT Promoter Mutation Detected in Isolation or in Combination with Other Mutations in Thyroid Neoplasms
Authors' conclusion
When preoperatively detected, TERT promoter mutations are more often seen in association with additional driver mutations or other genetic alterations such as CNA, but when present, carries a very high risk of malignancy (93%). Up to 1/3 are poorly differentiated or anaplastic thyroid cancer, and this likelihood is equivalent when TERT is present in isolation or in combination with other mutation.
Study context
- Population
- Adults undergoing initial diagnostic thyroid nodule evaluation with TERT promoter mutation (C228T/C250T) detected in preoperative FNA samples by TSv3 testing
- Participants
- 70 thyroid nodules
- Exposure
- Isolated TERT promoter mutation vs TERT with ≥1 concurrent mutation
- iTERTn = 18
- TERT+n = 52
- Outcome
- Malignancy on histology
Methodological detailssingle-institution
- Single-institution
Main finding
As reported in the abstract
P = 0.02
Observational data: associations, not effects.
Further findings
Distant metastasis · median follow-up 13.1 months (IQR 26.2, 7.2-33.4)
P = 0.65
| Outcome | iTERT | TERT+ | P value |
|---|---|---|---|
| Locoregional recurrence · median follow-up 13.1 months | 0 events | 25% | P = 0.31 |
- Distant metastasis — Distant metastasis overall
- 32.7%
- Bethesda III/IV cytology — Bethesda III/IV with iTERT vs Bethesda V/VI · more likely with iTERT
- 94% vs. 56% · P = 0.007
- Age · iTERT older
- P = 0.007
- Nodule size — Mean nodule size · similar
- 3.2 cm · P = 0.18
- Distant metastasis: iTERT 1/6
Poorly differentiated or anaplastic cancer among malignancies
- Poorly differentiated or anaplastic cancers, equivalent rate in both cohorts
- 33%
Additional abnormalities in TERT+
- BRAFV600E
- 23, 44%
- RAS
- 19, 37%
- Copy number alterations
- 15, 29%
Original publication
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