循环肿瘤DNA在临床应用中的研究进展

doi:10.3881/j.issn.1000-503X.2016.05.019

Acta Academiae Medicinae Sinica

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

Circulating Tumor DNA in Cancer Management

Miao-zhu LI¹(), Jian-zhen LIN², Hai-tao ZHAO²()

¹ Center for Population Health and Aging,Duke University,NC 27705,US
²Department of Liver Surgery,PUMC Hospital,CAMS and PUMC,Beijing 100730,China

Received:2016-03-10 Online:2016-10-20 Published:2016-10-10

Abstract

Abstract:

Molecular techniques can be very useful in detecting a patient’s tumor to guide treatment decisions is increasingly been applied in the care and management of cancer patients. Circulating tumor DNA (ctDNA) containing mutations can be identified in the plasma of cancer patients during the course of the disease. As a non-invasive “liquid biopsies”,ctDNA is a potential surrogate for the entire tumor genome. The use of ctDNA might help to determine the disease prognosis,monitor disease progression,monitor the molecular resistance and monitor the tumor heterogeneity. Future developments will need to provide clinical standards to validate the ctDNA as a clinical biomarker and improve the reproducibility and accuracy,in order to be better exploited for personalized medicine.

Key words: circulating tumor DNA, tumour, gene mutation, dynamic monitor, heterogeneity

CLC Number:

R34]

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.

Figures/Tables 1

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-AmpliSeq^TM				[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]

Table 1

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