Shi Hui, Ding Ke, Yang Xue Ting, Wu Ting Fan, Zheng Jia Yi, Wang Li Fan, Zhou Bo Yang, Sun Li Ping, Zhang Yi Feng, Zhao Chong Ke, Xu Hui Xiong
Department of Medical Ultrasound, Center of Minimally Invasive Treatment for Tumor, Shanghai Tenth People's Hospital, School of Medicine, Tongji University, China.
Shanghai Engineering Research Center of Ultrasound Diagnosis and Treatment, Shanghai, China.
J Clin Transl Endocrinol. 2025 Mar 30;40:100390. doi: 10.1016/j.jcte.2025.100390. eCollection 2025 Jun.
Preoperative identification of genetic mutations is conducive to individualized treatment and management of papillary thyroid carcinoma (PTC) patients. : To investigate the predictive value of the machine learning (ML)-based ultrasound (US) radiomics approaches for BRAF V600E and TERT promoter status (individually and coexistence) in PTC.
This multicenter study retrospectively collected data of 1076 PTC patients underwent genetic testing detection for BRAF V600E and TERT promoter between March 2016 and December 2021. Radiomics features were extracted from routine grayscale ultrasound images, and gene status-related features were selected. Then these features were included to nine different ML models to predicting different mutations, and optimal models plus statistically significant clinical information were also conducted. The models underwent training and testing, and comparisons were performed.
The Decision Tree-based US radiomics approach had superior prediction performance for the BRAF V600E mutation compared to the other eight ML models, with an area under the curve (AUC) of 0.767 versus 0.547-0.675 (p < 0.05). The US radiomics methodology employing Logistic Regression exhibited the highest accuracy in predicting TERT promoter mutations (AUC, 0.802 vs. 0.525-0.701, p < 0.001) and coexisting BRAF V600E and TERT promoter mutations (0.805 vs. 0.678-0.743, p < 0.001) within the test set. The incorporation of clinical factors enhanced predictive performances to 0.810 for BRAF V600E mutant, 0.897 for TERT promoter mutations, and 0.900 for dual mutations in PTCs.
The machine learning-based US radiomics methods, integrated with clinical characteristics, demonstrated effectiveness in predicting the BRAF V600E and TERT promoter mutations in PTCs.
术前识别基因突变有助于甲状腺乳头状癌(PTC)患者的个体化治疗与管理。目的:探讨基于机器学习(ML)的超声(US)影像组学方法对PTC中BRAF V600E和TERT启动子状态(单独及共存状态)的预测价值。
本多中心研究回顾性收集了2016年3月至2021年12月期间1076例行BRAF V600E和TERT启动子基因检测的PTC患者的数据。从常规灰阶超声图像中提取影像组学特征,并选择与基因状态相关的特征。然后将这些特征纳入9种不同的ML模型以预测不同的突变情况,还构建了包含最优模型及具有统计学意义的临床信息的模型。对模型进行训练和测试,并进行比较。
与其他8种ML模型相比,基于决策树的US影像组学方法对BRAF V600E突变具有更好的预测性能,曲线下面积(AUC)为0.767,而其他模型的AUC为0.547 - 0.675(p < 0.05)。采用逻辑回归的US影像组学方法在预测测试集中TERT启动子突变(AUC,0.802 vs. 0.525 - 0.701,p < 0.001)以及共存的BRAF V600E和TERT启动子突变(0.805 vs. 0.678 - 0.743,p < 0.001)方面表现出最高的准确性。纳入临床因素后,PTC中BRAF V600E突变的预测性能提高到0.810,TERT启动子突变的预测性能提高到0.897,双突变的预测性能提高到0.900。
基于机器学习的US影像组学方法结合临床特征,在预测PTC中的BRAF V600E和TERT启动子突变方面显示出有效性。