Aims: Telomerase reverse transcriptase (TERT) promoter mutations are well-known for being strongly associated with high-risk clinicopathological characteristics. However, there is limited research prospectively studying the prognostic value of TERT promoter mutations in thyroid cancer. This study aims to analyze the correlation between TERT promoter mutations and initial therapy response in papillary thyroid cancer (PTC).
Methods: Since 2019, our institution has conducted mutational analyses for BRAF and TERT promoter in thyroid cancer patients undergoing surgery. We analyzed the initial therapy response in patients with TERT promoter mutations.
Results: In our study of 11,936 PTC patients until 2022, TERT promoter mutations were identified in 115 (1.1%) cases. After one year post total thyroidectomy and RAI ablation, 6 (8.8%) patients exhibited biochemical incomplete response (BIR), and 13 (19.1%) patients showed structural incomplete response (SIR). Patients with lobectomy or total thyroidectomy without RAI ablation had 4 (9.1%) patients with BIR and none (0.0%) with SIR. After total thyroidectomy and RAI ablation, among 13 patients with BRAF-negative, 2 (15.4%) exhibited BIR, and 5 (38.5%) showed SIR. Among 55 patients with BRAF-positive, 4 (7.3%) exhibited BIR, and 8 (14.5%) showed SIR. Excluding cases with initial distant metastasis, no SIR (0.0%) was observed in BRAF-negative group, while 3 cases (6.0%) showed SIR in BRAF-positive group. During the 27.2 months of median follow-up duration, locoregional recurrence occurred in 5 patients.
Conclusion: TERT promoter mutations are associated with a poor outcome, but their impact on the initial therapy response appears to be limited in cases without initial distant metastasis.