Department of Radiology and Center for Imaging Science, Thyroid Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Department of Internal Medicine, CHA Bundang Medical Center, CHA University School of Medicine, Seongnam, Republic of Korea.
Sci Rep. 2024 Jul 3;14(1):15323. doi: 10.1038/s41598-024-66351-z.
Telomerase reverse transcriptase (TERT) promoter mutations are associated with tumor aggressiveness. This study aimed to demonstrate the ultrasonographic (US) features of TERT promoter-mutated follicular thyroid cancer (FTC) and evaluate their predictive performance. A total of 63 patients with surgically confirmed FTC between August 1995 and April 2021 were included. All data were available for analysis of preoperative US findings and TERT promoter mutation results. Genomic DNA was extracted from the archived surgical specimens to identify TERT promoter mutations. Logistic regression analysis was performed to compare US findings between TERT promoter-mutated and wild-type FTCs. Of the 63 patients with FTC, 10 (15.9%) had TERT promoter mutations. TERT promoter-mutated FTCs demonstrated significantly different US suspicion categories compared to wild-type FTCs (Ps = 0.0054 for K-TIRADS and 0.0208 for ACR-TIRADS), with a trend toward an increasing prevalence of the 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 margins and punctate echogenic foci were independent risk factors associated with TERT promoter mutation in FTC (odds ratio = 9.693, 95% confidence interval = 1.666-56.401, p = 0.0115 for margins; odds ratio = 8.033, 95% confidence interval = 1.424-45.309, p = 0.0182 for punctate echogenic foci). There were no significant differences in the composition and echogenicity of the TERT promoter-mutated and wild-type FTCs. TERT promoter-mutated FTCs were categorized more frequently as high suspicion by the K-TIRADS and ACR-TIRADS. Based on US findings, the independent risk factors for TERT promoter mutations in FTC are microlobulated margins and punctate echogenic foci.
端粒酶逆转录酶（TERT）启动子突变与肿瘤侵袭性相关。本研究旨在展示 TERT 启动子突变型滤泡状甲状腺癌（FTC）的超声（US）特征，并评估其预测性能。共纳入 1995 年 8 月至 2021 年 4 月期间经手术证实的 63 例 FTC 患者。所有数据均可用于分析术前 US 发现和 TERT 启动子突变结果。从存档的手术标本中提取基因组 DNA 以鉴定 TERT 启动子突变。采用 logistic 回归分析比较 TERT 启动子突变型和野生型 FTC 的 US 表现。在 63 例 FTC 患者中，10 例（15.9%）存在 TERT 启动子突变。与野生型 FTC 相比，TERT 启动子突变型 FTC 的 US 可疑类别存在显著差异（K-TIRADS 为 P=0.0054，ACR-TIRADS 为 P=0.0208），高可疑类别（K-TIRADS 和 ACR-TIRADS 均为 40.0%；P 趋势=0.0030 和 P 趋势=0.0032）的患病率呈上升趋势。微叶状边缘和点状等回声灶是 FTC 中与 TERT 启动子突变相关的独立危险因素（比值比=9.693，95%置信区间=1.666-56.401，P=0.0115；比值比=8.033，95%置信区间=1.424-45.309，P=0.0182）。TERT 启动子突变型和野生型 FTC 的成分和回声强度无显著差异。K-TIRADS 和 ACR-TIRADS 更频繁地将 TERT 启动子突变型 FTC 归类为高度可疑。根据 US 发现，FTC 中 TERT 启动子突变的独立危险因素是微叶状边缘和点状等回声灶。
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