Diffusion MRI-based connectomics features improve the noninvasive prediction of H3K27M mutation in brainstem gliomas

To establish an individualized predictive model to identify patients with brainstem gliomas (BSGs) at high risk of H3K27M mutation, with the inclusion of brain structural connectivity analysis based on diffusion MRI (dMRI).

A primary cohort of 133 patients with BSGs (80 H3K27M-mutant) were retrospectively included. All patients underwent preoperative conventional MRI and dMRI. Tumor radiomics features were extracted from conventional MRI, while two kinds of global connectomics features were extracted from dMRI. A machine learning-based individualized H3K27M mutation prediction model combining radiomics and connectomics features was generated with a nested cross validation strategy. Relief algorithm and SVM method were used in each outer LOOCV loop to select the most robust and discriminative features. Additionally, two predictive signatures were established using the LASSO method, and simplified logistic models were built using multivariable logistic regression analysis. An independent cohort of 27 patients was used to validate the best model.

35 tumor-related radiomics features, 51 topological properties of brain structural connectivity networks, and 11 microstructural measures along white matter tracts were selected to construct a machine learning-based H3K27M mutation prediction model, which achieved an AUC of 0.9136 in the independent validation set. Radiomics- and connectomics-based signatures were generated and simplified combined logistic model was built, upon which derived nomograph achieved an AUC of 0.8827 in the validation cohort.

dMRI is valuable in predicting H3K27M mutation in BSGs, and connectomics analysis is a promising approach. Combining multiple MRI sequences and clinical features, the established models have good performance.