Borea Roberto, Saldanha Erick F, Maheswaran Shivahamy, Nicolo Eleonora, Singhal Surbhi, Pontolillo Letizia, de Miguel Perez Diego, Venetis Konstantinos, Dipasquale Angelo, Ghazali Nadia, Pisapia Pasquale, Franco Ana Ortega, Gouda Mohamed A, Reduzzi Carolina
Department of Public Health, University Federico II of Naples, Naples, Italy; Department of Internal Medicine and Medical Sciences (DiMI), School of Medicine, University of Genova, Genova, Italy; International Society of Liquid Biopsy (ISLB) Young Committee, Spain.
International Society of Liquid Biopsy (ISLB) Young Committee, Spain; Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, University of Toronto, ON, Canada.
Crit Rev Oncol Hematol. 2025 May 28;213:104776. doi: 10.1016/j.critrevonc.2025.104776.
Over the past decade, liquid biopsy (LB) has emerged as a key tool in oncology. Its utility in non-invasive sampling and real-time monitoring has made it a cornerstone in precision medicine. Since 2020, publications on LB in solid tumors have doubled, underscoring its pivotal role in advancing cancer care. Notably, 2024 marked a peak in scientific papers on this topic. Blood remained the most studied biofluid, with circulating tumor DNA (ctDNA) as the most frequently analyzed analyte, followed by circulating tumor cells, extracellular vesicles, and microRNAs. Among tumor types, gastrointestinal, lung, breast, and genitourinary cancers were the most investigated, collectively accounting for more than half of the studies. Early cancer and minimal residual disease detection are critical areas of interest, emphasizing the expanding potential of fragmentomics and methylation profiling, as well as the prognostic significance of ctDNA across various cancer types. Moreover, serial ctDNA monitoring demonstrated the ability to predict relapse and guide treatment (de)-escalation strategies. In metastatic setting, ctDNA profiling plays a crucial role in capturing tumor heterogeneity, detecting resistance mechanisms, and informing treatment selection. Non-blood biofluids gained interest for their potential to enhance the detection of clinically relevant alterations in different cancer types such as central nervous system and head and neck cancers. Other than biomarkers selection, the technological advancements and artificial intelligence significantly improved the sensitivity and specificity of LB assays. This evidence in combination with the rapid advancement of machine learning and other computational approaches, are paving the way for a new chapter of LB research.
在过去十年中，液体活检（LB）已成为肿瘤学中的一项关键工具。它在无创采样和实时监测方面的效用使其成为精准医学的基石。自2020年以来，关于实体瘤液体活检的出版物数量翻了一番，突显了其在推进癌症治疗方面的关键作用。值得注意的是，2024年是关于该主题的科学论文发表量的峰值。血液仍然是研究最多的生物流体，循环肿瘤DNA（ctDNA）是最常分析的分析物，其次是循环肿瘤细胞、细胞外囊泡和微小RNA。在肿瘤类型中，胃肠道癌、肺癌、乳腺癌和泌尿生殖系统癌症是研究最多的，这些研究加起来占总数的一半以上。早期癌症和微小残留病的检测是关键的关注领域，这凸显了片段组学和甲基化分析的潜力不断扩大，以及ctDNA在各种癌症类型中的预后意义。此外，连续ctDNA监测显示出预测复发和指导治疗（降）级策略的能力。在转移性疾病中，ctDNA分析在捕捉肿瘤异质性、检测耐药机制和指导治疗选择方面发挥着关键作用。非血液生物流体因其在增强不同癌症类型（如中枢神经系统癌和头颈癌）临床相关改变检测方面的潜力而受到关注。除了生物标志物的选择，技术进步和人工智能显著提高了液体活检检测的灵敏度和特异性。这些证据与机器学习和其他计算方法的快速发展相结合，为液体活检研究的新篇章铺平了道路。
