Prediction of BRAF and TERT status in PTCs by machine learning-based ultrasound radiomics methods: A multicenter study

Abstract

Background

Preoperative identification of genetic mutations is conducive to individualized treatment and management of papillary thyroid carcinoma (PTC) patients. Purpose: 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.

Methods

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.

Results

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.

Conclusion

The machine learning-based US radiomics methods, integrated with clinical characteristics, demonstrated effectiveness in predicting the BRAF V600E and TERT promoter mutations in PTCs.