Kontic Milica, Stjepanovic Mihailo, Markovic Filip
Clinic for Pulmonology, University Clinical Center of Serbia, Koste Todorovica 26, 11000 Belgrade, Serbia.
School of Medicine, University of Belgrade, Dr Subotica 8, 11000 Belgrade, Serbia.
Genes (Basel). 2025 Aug 13;16(8):954. doi: 10.3390/genes16080954.
Lung cancer (LC), with non-small-cell lung cancer (NSCLC) as its predominant subtype, remains the leading cause of cancer-related mortality worldwide. While immune checkpoint inhibitors (ICIs) have redefined the therapeutic paradigm in advanced NSCLC, durable responses are confined to a limited subset of patients. A major clinical challenge persists: the inability to accurately predict which patients will derive meaningful benefit, which will exhibit primary resistance, and which are at risk for severe immune-related toxicities. The imperative to individualize ICI therapy necessitates robust, dynamic, and accessible biomarkers. Liquid biopsy has emerged as a transformative, minimally invasive tool that enables real-time molecular and immunologic profiling. Through analysis of circulating tumor DNA (ctDNA), circulating tumor cells (CTCs), exosomes, and peripheral blood immune components, liquid biopsy offers a window into both tumor intrinsic and host-related determinants of ICI response. These biomarkers not only hold promise for identifying predictive signatures-such as tumor mutational burden, neoantigen landscape, or immune activation states-but also for uncovering mechanisms of acquired resistance and guiding treatment adaptation. Beyond immunotherapy, liquid biopsy plays an increasingly central role in the landscape of targeted therapies, allowing early detection of actionable driver mutations and resistance mechanisms (e.g., EGFR T790M, MET amplification, and ALK fusion variants). Importantly, serial sampling via liquid biopsy facilitates longitudinal disease monitoring and timely therapeutic intervention without the need for repeated tissue biopsies. By guiding therapy selection, monitoring response, and detecting resistance early, liquid biopsy has the potential to significantly improve outcomes in NSCLC.
肺癌(LC),以非小细胞肺癌(NSCLC)为主要亚型,仍然是全球癌症相关死亡的主要原因。虽然免疫检查点抑制剂(ICI)重新定义了晚期NSCLC的治疗模式,但持久反应仅限于有限的一部分患者。一个主要的临床挑战仍然存在:无法准确预测哪些患者将获得有意义的益处,哪些将表现出原发性耐药,以及哪些有发生严重免疫相关毒性的风险。个体化ICI治疗的迫切需求需要强大、动态且可获取的生物标志物。液体活检已成为一种变革性的微创工具,能够进行实时分子和免疫分析。通过分析循环肿瘤DNA(ctDNA)、循环肿瘤细胞(CTC)、外泌体和外周血免疫成分,液体活检为ICI反应的肿瘤内在和宿主相关决定因素提供了一个窗口。这些生物标志物不仅有望识别预测特征,如肿瘤突变负荷、新抗原图谱或免疫激活状态,还能揭示获得性耐药机制并指导治疗调整。除了免疫治疗,液体活检在靶向治疗领域也发挥着越来越核心的作用,能够早期检测可操作的驱动基因突变和耐药机制(例如,EGFR T790M、MET扩增和ALK融合变体)。重要的是,通过液体活检进行系列采样有助于纵向疾病监测和及时的治疗干预,而无需重复组织活检。通过指导治疗选择、监测反应和早期检测耐药,液体活检有可能显著改善NSCLC的治疗结果。