Cancer remains a leading cause of death worldwide, despite many advances in diagnosis and treatment. Precision medicine has been a key area of focus, with research providing insights and progress in helping to lower cancer mortality through better patient stratification for therapies and more precise diagnostic techniques. However, unequal access to cancer care is still a global concern, with many patients having limited access to diagnostic tests and treatment regimens. Noninvasive liquid biopsy (LB) technology can determine tumour-specific molecular alterations in peripheral samples. This allows clinicians to infer knowledge at a DNA or cellular level, which can be used to screen individuals with high cancer risk, personalize treatments, monitor treatment response, and detect metastasis early. As scientific understanding of cancer pathology increases, LB technologies that utilize circulating tumour DNA (ctDNA) and circulating tumour cells (CTCs) have evolved over the course of research. These technologies incorporate tumour-specific markers into molecular testing platforms. For clinical translation and maximum patient benefit at a wider scale, the accuracy, accessibility, and affordability of LB tests need to be prioritized and compared with gold standard methodologies in current use. In this review, we highlight the range of technologies in LB diagnostics and discuss the future prospects of LB through the anticipated evolution of current technologies and the integration of emerging and novel ones. This could potentially allow a more cost-effective model of cancer care to be widely adopted.
尽管诊断与治疗领域已取得诸多进展，癌症仍是全球主要致死原因之一。精准医疗作为重点研究方向，通过优化患者治疗分层策略及发展更精确的诊断技术，为降低癌症死亡率提供了重要见解与进展。然而，癌症诊疗资源分配不均仍是全球性难题，大量患者难以获得充分的诊断检测与治疗方案。无创液体活检技术能够通过外周样本检测肿瘤特异性分子变异，使临床医生得以在DNA或细胞层面获取信息，进而实现高危人群筛查、个体化治疗、疗效监测及早期转移检测。随着对癌症病理学认知的不断深入，基于循环肿瘤DNA与循环肿瘤细胞的液体活检技术在研究进程中持续发展，这些技术将肿瘤特异性标志物整合至分子检测平台。为实现更广泛的临床转化并最大化患者获益，当前需重点评估液体活检检测的准确性、可及性与经济性，并与现行金标准方法进行系统比较。本文综述了液体活检诊断的技术谱系，通过展望现有技术的演进方向及新兴技术的融合路径，探讨该领域未来发展前景，这或将推动更具成本效益的癌症诊疗模式在全球范围内的广泛应用。
肿瘤(癌症)患者之家