ATRX is an important molecular marker according to the 2021 WHO classification of adult-type diffuse glioma. We aim to predict the ATRX mutation status non-invasively using radiomics-based machine learning models on MRI and to determine which MRI sequence is best suited for this purpose. In this retrospective study, we used MRI images of patients with histologically confirmed glioma, including the sequences T1w without and with the administration of contrast agent, T2w, and the FLAIR. Radiomics features were extracted from the corresponding MRI images by hand-delineated regions of interest. Data partitioning into training data and independent test data was repeated 100 times to avoid random effects. Feature preselection and subsequent model development were performed using Lasso regression. The T2w sequence was found to be the most suitable and the FLAIR sequence the least suitable for predicting ATRX mutations using radiomics-based machine learning models. For the T2w sequence, our seven-feature model developed with Lasso regression achieved a mean AUC of 0.831, a mean accuracy of 0.746, a mean sensitivity of 0.772, and a mean specificity of 0.697. In conclusion, for the prediction of ATRX mutation using radiomics-based machine learning models, the T2w sequence is the most suitable among the commonly used MRI sequences.

Purpose: In meningiomas, TERT promotor mutations are rare but qualify the diagnosis of anaplasia, directly impacting adjuvant therapy. Effective screening for patients at risk for promotor mutations could enable more targeted molecular analyses and improve diagnosis and treatment. Methods: Semiautomatic segmentation of intracranial grade 2/3 meningiomas was performed on preoperative magnetic resonance imaging. Discriminatory power to predict TERT promoter mutations was analyzed using a random forest algorithm with an increasing number of radiomic features. Two final models with five and eight features with both fixed and differing radiomics features were developed and adjusted to eliminate random effects and to avoid overfitting. Results: A total of 117 image sets including training (N = 94) and test data (N = 23) were analyzed. To eliminate random effects and demonstrate the robustness of our approach, data partitioning and subsequent model development and testing were repeated a total of 100 times (each time with repartitioned training and independent test data). The established five- and eight-feature models with both fixed and different radiomics features enabled the prediction of TERT with similar but excellent performance. The five-feature (different/fixed) model predicted TERT promotor mutation status with a mean AUC of 91.8%/94.3%, mean accuracy of 85.5%/88.9%, mean sensitivity of 88.6%/91.4%, mean specificity of 83.2%/87.0%, and a mean Cohen’s Kappa of 71.0%/77.7%. The eight-feature (different/fixed) model predicted TERT promotor mutation status with a mean AUC of 92.7%/94.6%, mean accuracy of 87.3%/88.9%, mean sensitivity of 89.6%/90.6%, mean specificity of 85.5%/87.5%, and a mean Cohen’s Kappa of 74.4%/77.6%. Of note, the addition of further features of up to N = 8 only slightly increased the performance. Conclusions: Radiomics-based machine learning enables prediction of TERT promotor mutation status in meningiomas with excellent discriminatory performance. Future analyses in larger cohorts should include grade 1 lesions as well as additional molecular alterations.