Radiomics for differentiation of somatic BAP1 mutation on CT scans of patients with pleural mesothelioma

The BRCA1-associated protein 1 (BAP1) gene is of great interest because somatic (BAP1) mutations are the most common alteration associated with pleural mesothelioma (PM). Further, germline mutation of the BAP1 gene has been linked to the development of PM. This study aimed to explore the potential of radiomics on computed tomography scans to identify somatic BAP1 gene mutations and assess the feasibility of radiomics in future research in identifying germline mutations.

A cohort of 149 patients with PM and known somatic BAP1 mutation status was collected, and a previously published deep learning model was used to first automatically segment the tumor, followed by radiologist modifications. Image preprocessing was performed, and texture features were extracted from the segmented tumor regions. The top features were selected and used to train 18 separate machine learning models using leave-one-out cross-validation (LOOCV). The performance of the models in distinguishing between BAP1-mutated (BAP1+) and BAP1 wild-type (BAP1-) tumors was evaluated using the receiver operating characteristic area under the curve (ROC AUC).

A decision tree classifier achieved the highest overall AUC value of 0.69 (95% confidence interval: 0.60 and 0.77). The features selected most frequently through the LOOCV were all second-order (gray-level co-occurrence or gray-level size zone matrices) and were extracted from images with an applied transformation.

This proof-of-concept work demonstrated the potential of radiomics to differentiate among BAP1+/- in patients with PM. Future work will extend these methods to the assessment of germline BAP1 mutation status through image analysis for improved patient prognostication.