Predicting EGFR mutation, ALK rearrangement, and uncommon EGFR mutation in NSCLC patients by driverless artificial intelligence: a cohort study

BACKGROUND: Timely identification of epidermal growth factor receptor (EGFR) mutation and anaplastic lymphoma kinase (ALK) rearrangement status in patients with non-small cell lung cancer (NSCLC) is essential for tyrosine kinase inhibitors (TKIs) administration. We aimed to use artificial intelligence (AI) models to predict EGFR mutations and ALK rearrangement status using common demographic features, pathology and serum tumor markers (STMs). METHODS: In this single-center study, demographic features, pathology, EGFR mutation status, ALK rearrangement, and levels of STMs were collected from Wuhan Union Hospital. One retrospective set (N = 1089) was used to train diagnostic performance using one deep learning model and five machine learning models, as well as the stacked ensemble model for predicting EGFR mutations, uncommon EGFR mutations, and ALK rearrangement status. A consecutive testing cohort (n = 1464) was used to validate the predictive models. RESULTS: The final AI model using the stacked ensemble yielded optimal diagnostic performance with areas under the curve (AUC) of 0.897 and 0.883 for predicting EGFR mutation status and 0.995 and 0.921 for predicting ALK rearrangement in the training and testing cohorts, respectively. Furthermore, an overall accuracy of 0.93 and 0.83 in the training and testing cohorts, respectively, were achieved in distinguishing common and uncommon EGFR mutations, which were key evidence in guiding TKI selection. CONCLUSIONS: In this study, driverless AI based on robust variables could help clinicians identify EGFR mutations and ALK rearrangement status and provide vital guidance in TKI selection for targeted therapy in NSCLC patients. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12931-022-02053-2.