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Machine learning approaches for EGFR mutation status prediction in NSCLC: an updated systematic review

Haixian L, Shu P, Zhao L, Chunfeng L, Lun L

Frontiers in oncology, 2025

11 citations

Abstract

Background: With the rapid advances in artificial intelligence-particularly convolutional neural networks-researchers now exploit CT, PET/CT and other imaging modalities to predict epidermal growth factor receptor (EGFR) mutation status in non-small-cell lung cancer (NSCLC) non-invasively, rapidly and repeatably. End-to-end deep-learning models simultaneously perform feature extraction and classification, capturing not only traditional radiomic signatures such as tumour density and texture but also peri-tumoural micro-environmental cues, thereby offering a higher theoretical performance ceiling than hand-crafted radiomics coupled with classical machine learning. Nevertheless, the need for large, well-annotated datasets, the domain shifts introduced by heterogeneous scanning protocols and preprocessing pipelines, and the "black-box" nature of neural networks all hinder clinical adoption. To address fragmented evidence and scarce external validation, we conducted a systematic review to appraise the true performance of deep-learning and radiomics models for EGFR prediction and to identify barriers to clinical translation, thereby establishing a baseline for forthcoming multicentre prospective studies.

Methods: Following PRISMA 2020, we searched PubMed, Web of Science and IEEE Xplore for studies published between 2018 and 2024. Fifty-nine original articles met the inclusion criteria. QUADAS-2 was applied to the eight studies that developed models using real-world clinical data,…

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