Acta Academiae Medicinae Sinica ›› 2016, Vol. 38 ›› Issue (5): 594-600.doi: 10.3881/j.issn.1000-503X.2016.05.019
• Orginal Article • Previous Articles Next Articles
Miao-zhu LI1(), Jian-zhen LIN2, Hai-tao ZHAO2(
)
Received:
2016-03-10
Online:
2016-10-20
Published:
2016-10-10
CLC Number:
Miao-zhu LI, Jian-zhen LIN, Hai-tao ZHAO. Circulating Tumor DNA in Cancer Management[J].Acta Academiae Medicinae Sinica, 2016, 38(5): 594-600.
Table 1
Technologies for circulating tumor DNA (ctDNA) detection"
ctDNA核心检测原理 Principle of detection | ctDNA检测方法 Method | 检测突变类型 Type of alternation | 优点 Advantage | 缺点 Disadvantage | 代表文献 Selected references |
---|---|---|---|---|---|
实时定量聚合酶链式反应 Real-time quantitative PCR | 扩增耐突变系统聚合酶链式反应ARMS/scorp- ion PCR | 已知突变位点,如EG- FR、KRAS、PIK3CA和 基因重排Given mutat- ion,such as EGFR,K- RAS,PIK3CA and gene rearrangement | 简单快捷,特异性好, 法规支持Simplicity, quick,high specificity and law-supported | 敏感性较低,只能检测已知位点Low sensitivity,only given mutation | [20][21] |
PCR-SSCP | [22] | ||||
质谱分析法 Mass spectrometry | [23] | ||||
MIDI,Bi-PAP-A,MAP | [24][25] | ||||
巢式实时定量聚合酶链式反应Quantitative nested real-time PCR | [26] | ||||
数字聚合酶链式反应Digital PCR | BEAMing | 已知突变位点和基因重排Given mutation and g- ene rearrangement | 高敏感度,绝对定量 High sensitivity,abs- olute quantification | 只能检测已知位点Only given mutation | [12][13] |
微滴式数字聚合酶链式反应 Digital micro-droplet PCR | [10][27] [28][29] | ||||
微流控数字聚合酶链式反应 Digital micro-fluidics PCR | [30][31] | ||||
靶向深度测序 Tagged deep sequencing | SafeSeqs | 选择性区域的SNVs, CNVs,重排和扩增等 SNVs,CNVs,rearra- ngement and amplifica- tion in selective region | 高敏感度,价格适中High sensitivity and moderate price | 只能检测选择区域,覆盖度低于全基因组Only selective region,lower coverage rate compared with whole genome | [32] |
TAm-Seq | [14] | ||||
靶向测序OnTarget | [33] | ||||
Ion-AmpliSeqTM | [34][35] | ||||
CAPP-Seq | [15][16] | ||||
全基因组二代测序 Whole genome next-generation sequencing | PARE | 全基因组SNVs,CNVs, 重排和扩增等SNVs, CNVs,rearrangement and amplification in w- hole genome | 高敏感度,可检测未知 突变High sensitivity,un- known mutation avaliable | 价格昂贵,耗时较长 Expensive,more time consuming | [17][18] |
数字式核型分析 Digital karyotyping | [36] | ||||
Plasma-Seq | [37] | ||||
MPS | [38] | ||||
WGS | [39][40] | ||||
WES | 编码区域覆盖的SNVs, CNVs等SNVs,CNVs in coding region | 价格昂贵,耗时长 Expensive,more time consuming | [41] | ||
全基因组甲基化测序Whole genome bisulfite sequencing | 覆盖区域甲基化状态Methylation status in covered region | 价格昂贵,耗时长Expensive,more time consuming | [42] |
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