Classification of retinoblastoma-1 gene mutation with machine learning-based models in bladder cancer

This study aims to evaluate the potential of machine learning algorithms built with radiomics features from computed tomography urography (CTU) images that classify RB1 gene mutation status in bladder cancer.

The study enrolled CTU images of 18 patients with and 54 without RB1 mutation from a public database. Image and data preprocessing were performed after data augmentation. Feature selection steps were consisted of filter and wrapper methods. Pearson's correlation analysis was the filter, and a wrapper-based sequential feature selection algorithm was the wrapper. Models with XGBoost, Random Forest (RF), and k-Nearest Neighbors (kNN) algorithms were developed. Performance metrics of the models were calculated. Models' performances were compared by using Friedman's test.

8 features were selected from 851 total extracted features. Accuracy, sensitivity, specificity, precision, recall, F1 measure and AUC were 84%, 80%, 88%, 86%, 80%, 0.83 and 0.84, for XGBoost; 72%, 80%, 65%, 67%, 80%, 0.73 and 0.72 for RF; 66%, 53%, 76%, 67%, 53%, 0.60 and 0.65 for kNN, respectively. XGBoost model had outperformed kNN model in Friedman's test (p = 0.006).

Machine learning algorithms with radiomics features from CTU images show promising results in classifying bladder cancer by RB1 mutation status non-invasively.