研究动态
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超声在预测滤泡性甲状腺癌端粒酶逆转录酶(TERT)启动子突变中的作用。

Role of ultrasound in predicting telomerase reverse transcriptase (TERT) promoter mutation in follicular thyroid carcinoma.

发表日期:2024 Jul 03
作者: Myoung Kyoung Kim, Hyunju Park, Young Lyun Oh, Jung Hee Shin, Tae Hyuk Kim, Soo Yeon Hahn
来源: GENES & DEVELOPMENT

摘要:

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 启动子突变的滤泡性甲状腺癌 (FTC) 的超声检查 (US) 特征并评估其预测性能。共有 63 名 1995 年 8 月至 2021 年 4 月期间经手术确诊为 FTC 的患者纳入研究。所有数据均可用于分析术前超声检查结果和 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。进行逻辑回归分析以比较 TERT 启动子突变和野生型 FTC 之间的美国研究结果。在 63 例 FTC 患者中,10 例(15.9%)有 TERT 启动子突变。与野生型 FTC 相比,TERT 启动子突变的 FTC 在美国的怀疑类别表现出显着不同(K-TIRADS 的 Ps = 0.0054,ACR-TIRADS 的 Ps = 0.0208),并且高度怀疑类别的患病率有增加的趋势(两者均为 40.0%) K-TIRADS 和 ACR-TIRADS;K-TIRADS 的趋势 Ps = 0.0030,ACR-TIRADS 的 Ps 0.0032)。微分叶边缘和点状回声灶是与 FTC TERT 启动子突变相关的独立危险因素(边缘比值比 = 9.693,95% 置信区间 = 1.666-56.401,p = 0.0115;比值比 = 8.033,95% 置信区间 = 1.42 4- 45.309,对于点状回声病灶,p = 0.0182)。 TERT启动子突变型和野生型FTC的组成和回声性没有显着差异。 K-TIRADS 和 ACR-TIRADS 更频繁地将 TERT 启动子突变的 FTC 归类为高度怀疑。根据美国的研究结果,FTC 中 TERT 启动子突变的独立危险因素是微分叶边缘和点状回声灶。© 2024。作者。
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.© 2024. The Author(s).