Endocrine Abstracts

Purpose: Telomerase reverse transcriptase (TERT) promoter mutations are associated with tumor aggressiveness. The purpose of our study was to demonstrate the ultrasonographic (US) features of TERT promoter-mutated follicular thyroid cancer (FTC) and to evaluate their predictive performances.

Materials and methods: Total 63 patients who had surgically confirmed FTC between August 1995 and April 2021 were included in this study. All of them were available for analysis of preoperative US findings and TERT promoter mutation results. Genomic DNA to identify TERT promoter mutations was extracted from archived surgical specimens. Logistic regression analysis was performed to compare US findings between TERT promoter-mutated and wild-type FTCs.

Results: Of 63 patients with FTC, 10 patients (15.9 %) had TERT promoter mutation. TERT promoter-mutated FTCs demonstrated significantly different US suspicion category compared to wild-type FTCs (Ps = 0.0054 for K-TIRADS and 0.0208 for ACR-TIRADS), with a trend toward increasing prevalence of high suspicion category (40.0 % for both K-TIRADS and ACR-TIRADS; Ps for trend = 0.0030 for K-TIRADS and 0.0032 for ACR-TIRADS). Microlobulated margin and punctate echogenic foci were independent risk factors related to TERT promoter mutation of FTC (odds ratio 9.693, 95% confidence interval 1.666–56.401, P = 0.0115 for margin; odds ratio 8.033, 95% confidence interval 1.424–45.309, P = 0.0182 for punctate echogenic foci). There were no significant differences in composition and echogenicity for TERT promoter-mutated and wild-type FTCs.

Conclusions: TERT promoter-mutated FTC are categorized more frequently as high suspicion by K-TIRADS and ACR-TIRADS. Based on US findings, independent risk factors for TERT promoter mutation of FTC are microlobulated margin and punctate echogenic foci.

Clinical Relevance/Application: TERT promoter mutations are closely associated with tumor aggressiveness and poor clinical outcomes in patients with thyroid cancer. The results of this study suggest that TERT promoter mutation tests should be performed in FTC patients with US features, including microlobulated margin and punctate echogenic foci.