Krishnamurthy Nithya, Spencer Emily, Torkamani Ali, Nicholson Laura
Scripps Translational Science Institute/The Scripps Research Institute, 3344 North Torrey Pines Court, Suite 300, La Jolla, CA 92037, USA.
J Clin Med. 2017 Jan 4;6(1):3. doi: 10.3390/jcm6010003.
The use of circulating tumor DNA (ctDNA) as a novel and non-invasive test for the diagnosis and surveillance of cancer is a rapidly growing area of interest, with sequencing of ctDNA acting as a potential surrogate for tissue biopsy. Circulating tumor DNA has been detected incidentally during noninvasive prenatal testing and additionally in more than 75% of known cancer patients participating in ctDNA studies evaluating its sensitivity. In the setting of mutation-based targeted tumor therapy, it shows a concordance rate >80% when compared with gold-standard tissue biopsies. Through ctDNA detection and sequencing, a simple blood test becomes a liquid biopsy for cancer, surveying a patient's entire circulation with the goal of early detection, prognostic information, personalized therapy options, and tracking for recurrence or resistance, all with fewer or no tissue biopsies. Given the recent first-ever FDA approval of a liquid biopsy, it is important for clinicians to be aware of the rapid advancements likely to bring these tests into our practices soon. Here we review the biology, clinical implications, and recent advances in circulating tumor DNA analysis.
将循环肿瘤DNA（ctDNA）用作癌症诊断和监测的一种新型非侵入性检测方法，是一个迅速发展的热门领域，ctDNA测序可作为组织活检的潜在替代方法。在无创产前检测期间偶然发现了循环肿瘤DNA，此外，在参与评估其敏感性的ctDNA研究的已知癌症患者中，超过75%的患者也检测到了循环肿瘤DNA。在基于突变的靶向肿瘤治疗中，与金标准组织活检相比，其一致性率>80%。通过ctDNA检测和测序，一项简单的血液检测就成为了癌症的液体活检，对患者的整个循环系统进行检测，目标是早期检测、提供预后信息、确定个性化治疗方案以及追踪复发或耐药情况，所有这些都只需进行较少的组织活检或无需组织活检。鉴于美国食品药品监督管理局（FDA）最近首次批准了一项液体活检，临床医生了解这些检测方法可能很快应用于临床实践的快速进展非常重要。在此，我们综述了循环肿瘤DNA分析的生物学特性、临床意义和最新进展。
