| 张诗超,陈之遥,糜怡珺,沈吟芳,缪丽燕.循环肿瘤DNA突变检测方法研究进展[J].,2018,(23):4571-4578 |
| 循环肿瘤DNA突变检测方法研究进展 |
| Advances in Mutant Detection of Circulating Tumor DNA |
| 投稿时间：2018-02-28 修订日期：2018-03-23 |
| DOI：10.13241/j.cnki.pmb.2018.23.040 |
| 中文关键词: 循环肿瘤DNA 突变检测技术 灵敏度 |
| 英文关键词: Circulating tumor DNA Mutation detection method Sensitivity |
| 基金项目:国家自然科学基金青年基金项目（81401745）；江苏省临床医学科技专项（BL2014049）；常州四药临床药学科研基金项目（SYSD2014143） |
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| 中文摘要: |
| 摘要：循环肿瘤DNA（Circulating Tumor DNA，ctDNA）含有肿瘤的遗传信息，与肿瘤组织具有高度的一致性，可代替肿瘤组织用于肿瘤的早期诊断，预后监测和药物疗效监测，是一种具有良好临床应用前景的液体活检标记物。但血液中的ctDNA片段化程度高，含量稀少，且与野生型DNA混合存在（约1%甚至更低），并会随着患者肿瘤分期等情况动态变化，造成了ctDNA检测困难，需要高灵敏度高特异性的突变检测方法，才能够从大量的野生型DNA中检测出微量突变型ctDNA。目前，灵敏度和特异性能够满足ctDNA检测需求的方法主要有扩增阻滞突变系统PCR（Amplification Refractory Mutation System PCR，ARMS-PCR）、钳制PCR（Clamping-PCR）、数字化PCR（Digital-PCR）、西格诺公司的质谱分辨技术（Sequenom UltraseekTM）和高通量测序技术。本文对这些方法的原理、特点、最新进展和应用前景进行了综述，为研究人员选择合适的ctDNA检测方法提供理论依据。 |
| 英文摘要: |
| ABSTRACT: Circulating tumor DNA (ctDNA) has a high degree of consistency with tumor tissue in genetic information. CtDNA can replace tumor tissue for early diagnosis of cancer, prognosis and drug efficacy monitoring. It is acknowledged as a liquid biopsy marker with benign clinical application prospect. However, ctDNA in the blood is highly fragmented and scarce. It also coexisted with wild-type DNA (1% or less) and varies consistently with the change of patient tumor stage, resulting in ctDNA detection difficulties. To detect scarce ctDNA from large amount of wild-type DNA, researchers need to find a high-sensitivity and high-specificity mutation de- tection method. Currently, a few methods with ultrahigh sensitivity and high specific can meet the ctDNA detection requirements, includ- ing ARMS-PCR, Clamping-PCR, Digital-PCR, Sequenom UltraseekTM and Next-generation Sequencing. In this article, the principles, characteristics, latest developments and application prospects of these methods are reviewed, which provides the theoretical basis for re- searchers to select an appropriate ctDNA detection method. |
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