Jahani Mohammad Mehdi, Mashayekhi Parisa, Omrani Mir Davood, Azimi Meibodi Azita
Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
Adv Biomed Res. 2025 Apr 30;14:39. doi: 10.4103/abr.abr_640_24. eCollection 2025.
This review systematically evaluated the literature on detecting epidermal growth factor receptor (EGFR) mutations in non-small cell lung cancer (NSCLC) using plasma exosomal DNA by analyzing data from eight studies selected from a comprehensive literature search (PubMed, Embase, Web of Science; 2010-2024). The findings revealed a wide range of EGFR mutation prevalence (10%-26.8%) across studies, with most mutations located in exons 19 and 21. Comparative analysis highlighted the potential of plasma exosomal DNA (exDNA) as a non-invasive alternative to tissue biopsy, although significant heterogeneity in sensitivity and specificity was observed across liquid biopsy methods (including circulating tumor cells and exDNA analyses). This heterogeneity underscores the need for standardization and further validation to optimize the clinical utility of plasma exDNA in detecting EGFR mutations, monitoring treatment response, and identifying resistance mechanisms in NSCLC.
本综述通过分析从全面文献检索（PubMed、Embase、科学网；2010 - 2024年）中筛选出的八项研究数据，系统评估了利用血浆外泌体DNA检测非小细胞肺癌（NSCLC）中表皮生长因子受体（EGFR）突变的文献。研究结果显示，各研究中EGFR突变患病率差异较大（10% - 26.8%），大多数突变位于19号和21号外显子。比较分析突出了血浆外泌体DNA（exDNA）作为组织活检的非侵入性替代方法的潜力，尽管在液体活检方法（包括循环肿瘤细胞和exDNA分析）中观察到敏感性和特异性存在显著异质性。这种异质性强调了标准化和进一步验证的必要性，以优化血浆exDNA在检测NSCLC中EGFR突变、监测治疗反应和识别耐药机制方面的临床应用。
