Liquid biopsy enters the clinic - implementation issues and future challenges
Liquid biopsy enters the clinic - implementation issues and future challenges
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DOI：
10.1038/s41571-020-00457-x
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发表时间：
2021-01-20
影响因子：
78.8
通讯作者：
Jeffrey, Stefanie S.
中科院分区：
文献类型：
--
作者：
Ignatiadis, Michail;Sledge, George W.;Jeffrey, Stefanie S.
从历史上看，对骨髓中播散的肿瘤细胞和外周血中循环的肿瘤细胞的研究为癌症生物学和转移过程提供了重要的见解。最近，循环肿瘤DNA（ctDNA）的检测和表征的进展最终使得能够将液体活检测定引入临床实践。FDA已经批准了几种单基因检测方法，最近还批准了多基因检测方法，用于检测血浆游离DNA（cfDNA）中的遗传改变，用作与癌症特异性分子靶向治疗相匹配的伴随诊断。这些批准标志着液体活检在临床上广泛使用的转折点，主要是在晚期癌症患者中。液体活检临床应用的下一个前沿可能是对“ctDNA复发”患者的全身治疗，“ctDNA复发”是我们为早期疾病的治愈性治疗后成像检测复发之前的ctDNA检测引入的术语。癌症筛查和诊断是其他潜在的未来应用。在这个角度来看，我们讨论的关键问题和差距，在技术，临床试验方法和物流的液体活检到临床工作流程的最终整合。
Historically, studies of disseminated tumour cells in bone marrow and circulating tumour cells in peripheral blood have provided crucial insights into cancer biology and the metastatic process. More recently, advances in the detection and characterization of circulating tumour DNA (ctDNA) have finally enabled the introduction of liquid biopsy assays into clinical practice. The FDA has already approved several single-gene assays and, more recently, multigene assays to detect genetic alterations in plasma cell-free DNA (cfDNA) for use as companion diagnostics matched to specific molecularly targeted therapies for cancer. These approvals mark a tipping point for the widespread use of liquid biopsy in the clinic, and mostly in patients with advanced-stage cancer. The next frontier for the clinical application of liquid biopsy is likely to be the systemic treatment of patients with 'ctDNA relapse', a term we introduce for ctDNA detection prior to imaging-detected relapse after curative-intent therapy for early stage disease. Cancer screening and diagnosis are other potential future applications. In this Perspective, we discuss key issues and gaps in technology, clinical trial methodologies and logistics for the eventual integration of liquid biopsy into the clinical workflow.