Abstract
BACKGROUND: Deep learning (DL) based on MRI of medulloblastoma enables risk stratification, potentially aiding in therapeutic decisions. This study aims to develop DL models that identify four medulloblastoma molecular subgroups and prognostic-related genetic signatures. METHODS: This retrospective study enrolled 325 patients for model development and an independent external validation cohort of 124 patients, totaling 449 MB patients from 2 medical institutes. Consecutive patients with newly diagnosed MB at MRI (T1-weighted, T2-weighted, and contrast-enhanced T1-weighted) at two medical institutes between January 2015 and June 2023 were identified. Two-stage sequential DL models were designed-MB-CNN that first identifies wingless (WNT), sonic hedgehog (SHH), Group 3, and Group 4. Further, prognostic-related genetic signatures using DL models (MB-CNN_TP53/MYC/Chr11) were developed to predict TP53 mutation, MYC amplification, and chromosome 11 loss status. A hybrid model combining MB-CNN and conventional data (clinical information and MRI features) was compared to a logistic regression model constructed only with conventional data. Four-classification tasks were evaluated with confusion matrices (accuracy) and two-classification tasks with ROC curves (area under the curve (AUC)). RESULTS: The datasets comprised 449 patients (mean age ± SD at diagnosis, 13.55 years ± 2.33, 249 males). MB-CNN accurately classified MB subgroups in the external test dataset, achieving a median accuracy of 77.50% (range in 76.29% to 78.71%). MB-CNN_TP53/MYC/Chr11 models effectively predicted signatures (AUC of TP53 in SHH: 0.91, MYC amplification in Group 3: 0.87, chromosome 11 loss in Group 4: 0.89). The accuracy of the hybrid model outperformed the logistic regression model (82.20% vs. 59.14%, P = .009) and showed comparable performance to MB-CNN (82.20% vs. 77.50%, P = 0.105). CONCLUSION: MRI-based DL models allowed identification of the molecular medulloblastoma subgroups and prognostic-related genetic signatures.