Predicting EGFR mutation status in lung adenocarcinoma on computed tomography image using deep learning

TLDR

EGFR genotyping is essential for guiding tyrosine kinase inhibitor therapy in lung adenocarcinoma, yet current methods depend on invasive biopsy and sequencing. The study aims to develop a non‑invasive deep‑learning model that predicts EGFR mutation status from computed tomography images. Using 844 pre‑operative CT scans from two hospitals, the authors trained an end‑to‑end deep‑learning network to classify EGFR mutation status. The model achieved AUCs of 0.85 and 0.81 in primary and validation cohorts, outperforming prior hand‑crafted approaches and clearly distinguishing mutant from wild‑type tumors, demonstrating a practical non‑invasive prediction tool.

Abstract

Epidermal growth factor receptor (EGFR) genotyping is critical for treatment guidelines such as the use of tyrosine kinase inhibitors in lung adenocarcinoma. Conventional identification of EGFR genotype requires biopsy and sequence testing which is invasive and may suffer from the difficulty of accessing tissue samples. Here, we propose a deep learning model to predict EGFR mutation status in lung adenocarcinoma using non-invasive computed tomography (CT). We retrospectively collected data from 844 lung adenocarcinoma patients with pre-operative CT images, EGFR mutation and clinical information from two hospitals. An end-to-end deep learning model was proposed to predict the EGFR mutation status by CT scanning. By training in 14 926 CT images, the deep learning model achieved encouraging predictive performance in both the primary cohort (n=603; AUC 0.85, 95% CI 0.83–0.88) and the independent validation cohort (n=241; AUC 0.81, 95% CI 0.79–0.83), which showed significant improvement over previous studies using hand-crafted CT features or clinical characteristics (p<0.001). The deep learning score demonstrated significant differences in EGFR-mutant and EGFR-wild type tumours (p<0.001). Since CT is routinely used in lung cancer diagnosis, the deep learning model provides a non-invasive and easy-to-use method for EGFR mutation status prediction.