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Updated: Aug 1, 2025

Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
Predicting EGFR Mutation Status in Non-Small Cell Lung Cancer Using Artificial Intelligence: A Systematic Review and
Hung Song Nguyen1, Dang Khanh Ngan Ho2, Nam Nhat Nguyen3
1International Ph.D. Program in Medicine, College of Medicine, Taipei Medical University, Taipei City, Taiwan (H.S.N., N.N.N.); Department of Pediatrics, Pham Ngoc Thach University of Medicine, Ho Chi Minh City, Viet Nam (H.S.N.); Intensive Care Unit Department, Children's Hospital 1, Ho Chi Minh City, Viet Nam (H.S.N.).
Rationale And Objectives:
Recent advancements in artificial intelligence (AI) render a substantial promise for epidermal growth factor receptor (EGFR) mutation status prediction in non-small cell lung cancer (NSCLC). We aimed to evaluate the performance and quality of AI algorithms that use radiomics features in predicting EGFR mutation status in patient with NSCLC.
Materials And Methods:
We searched PubMed (Medline), EMBASE, Web of Science, and IEEExplore for studies published up to February 28, 2022. Studies utilizing an AI algorithm (either conventional machine learning [cML] and deep learning [DL]) for predicting EGFR mutations in patients with NSLCL were included. We extracted binary diagnostic accuracy data and constructed a bivariate random-effects model to obtain pooled sensitivity, specificity, and 95% confidence interval. This study is registered with PROSPERO, CRD42021278738.
Results:
Our search identified 460 studies, of which 42 were included. Thirty-five studies were included in the meta-analysis. The AI algorithms exhibited an overall area under the curve (AUC) value of 0.789 and pooled sensitivity and specificity levels of 72.2% and 73.3%, respectively. The DL algorithms outperformed cML in terms of AUC (0.822 vs. 0.775) and sensitivity (80.1% vs. 71.1%), but had lower specificity (70.0% vs. 73.8%, p-value < 0.001) compared to cML. Subgroup analysis revealed that the use of positron-emission tomography/computed tomography, additional clinical information, deep feature extraction, and manual segmentation can improve diagnostic performance.
Conclusion:
DL algorithms can serve as a novel method for increasing predictive accuracy and thus have considerable potential for use in predicting EGFR mutation status in patient with NSCLC. We also suggest that guidelines on using AI algorithms in medical image analysis should be developed with a focus on oncologic radiomics.
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