Department of Pathology and Laboratory Medicine, University of Texas Health Science Center, Houston, TX, 77030, USA.
Department of Hematopathology, Division of Pathology and Laboratory Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, 77030, USA.
Curr Hematol Malig Rep. 2019 Oct;14(5):358-367. doi: 10.1007/s11899-019-00532-w.
While liquid biopsy is still relatively a new concept, the advent of next-generation sequencing (NGS) technologies has recently generated a revolution in the field and will be the focus of this review.
Circulating tumor DNA (ctDNA) derives from tumor cells and provides information about the genetic alterations of tumors. However, ctDNA concentration in plasma can be below the level of detection by conventional methods; therefore, screening for actionable genetic information is challenging. Clinical trials exploring targeted and untargeted sequencing to improve the outcomes of ctDNA detection are showing promising results, having reached a limit of detection as low as 0.001% of ctDNA in a background of normal circulating DNA. Most of the challenges related to the sensitivity of detection of ctDNA have been defeated by dint of NGS-based approaches. Despite all the efforts, these methods are still expensive, time-consuming, and require advanced skills for appropriate interpretation. Nevertheless, the technology is rapidly improving, and the expectations for the implementation of liquid biopsy into the clinical practice in the near future are high.
液体活检虽然仍是一个相对较新的概念，但下一代测序（NGS）技术的出现最近彻底改变了该领域，这将是本次综述的重点。
循环肿瘤 DNA（ctDNA）来源于肿瘤细胞，提供有关肿瘤遗传改变的信息。然而，ctDNA 在血浆中的浓度可能低于常规方法的检测水平；因此，筛选可行的遗传信息具有挑战性。探索靶向和非靶向测序以提高 ctDNA 检测结果的临床试验正在取得有希望的结果，其检测灵敏度已达到在正常循环 DNA 背景下低至 0.001%ctDNA 的检测极限。基于 NGS 的方法克服了与 ctDNA 检测灵敏度相关的大多数挑战。尽管付出了所有努力，这些方法仍然昂贵、耗时且需要高级技能进行适当的解读。然而，该技术正在迅速改进，人们对在不久的将来将液体活检应用于临床实践抱有很高的期望。
