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循环肿瘤DNA的检测及其临床意义

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Author:: No author available

Journal Title:: 中华生物医学工程杂志

Issue:: 2

DOI:: 10.3760/cma.j.issn.1674-1927.2016.02.016

Key Word:: No keyword available

Abstract：恶性肿瘤因高发病率及病死率严重危害人类健康与生存，早期诊断对改善患者预后至关重要，然而由于肿瘤早期症状的非特异性，多数患者发现时已属晚期；且由于肿瘤基因的不稳定性［1］，有创的病理活检难以实行动态监测，往往导致治疗失败的发生，因此早期诊断、实时监测肿瘤进展且无创的检测方法亟待开发。<br>　　肿瘤患者外周血循环游离DNA（circulating cell?free DNA，cfDNA）除来自正常及凋亡细胞释放的DNA外，还主要来自于肿瘤细胞释放的DNA，即循环肿瘤DNA（circulating tumor DNA，ctDNA），使得肿瘤患者cfDNA在质和量上均不同于健康人群。ctDNA存在肿瘤相关变异，在肿瘤早期即可升高，可实时反应肿瘤原发灶及所有转移灶的平均水平［2］，且取材方便、无创，近来受到广泛关注。本文就ctDNA的检测方法、临床意义进行综述。

Reference

[1]逄锦忠,钦伦秀,任宁,等.肝细胞癌患者血浆循环DNA微卫星变异的研究[J].2006,(24).
[2]谢广顺,侯爱荣,李龙芸,等.Quantification of plasma DNA as a screening tool for lung cancer[J].2004,(10).
[3]王惠宇,葛蓉,刘宝瑞.肿瘤内部异质性和“实时液体活检”研究进展[J].2015,(7).
[4]孙恒.晚期结肠肿瘤患者化疗前后血浆DNA定量检测及临床特征分析[D].2014.
[5]杨麒巍,张玉成,张桂珍,等.3种血浆游离DNA提取方法的比较[C].2013.
[6]Matsubara N,Kanbara T,Matsuoka J,etc.Allelic imbalance and microsatellite instability in plasma DNA released from polyclonal pancreatic adenocarcinoma.[J].2002,21(5).
[7]Fackler,M.J.,Bujanda,Z.L.,Umbricht,C.,etc.Novel methylated biomarkers and a robust assay to detect circulating tumor dna in metastatic breast cancer[J].2014,74(8).
[8]Spindler,K.-L.G.,Appelt,A.L.,Pallisgaard,N.,etc.Cell-free DNA in healthy individuals, noncancerous disease and strong prognostic value in colorectal cancer[J].2014,135(12).
[9]L X, Qin,Z Y, Tang,J S, Sham,etc.The association of chromosome 8p deletion and tumor metastasis in human hepatocellular carcinoma.[J].1999,59(22).
[10]Spindler,K.G.,Appelt,A.L.,Pallisgaard,N.,etc.KRAS-mutated plasma DNA as predictor of outcome from irinotecan monotherapy in metastatic colorectal cancer[J].2013,109(12).
[11]Pei-Ching, Lin,Jen-Kou, Lin,Chien-Hsing, Lin,etc.Clinical Relevance of Plasma DNA Methylation in Colorectal Cancer Patients Identified by Using a Genome-Wide High-Resolution Array.[J].2015,22.
[12]Chetan, Bettegowda,Mark, Sausen,Rebecca J, Leary,etc.Detection of circulating tumor DNA in early- and late-stage human malignancies.[J].2014,6(224).
[13]Winnie Yeo,Nathalie Wong,Wai-Lap Wong,etc.High frequency of promoter hypermethylation of RASSF1A in tumor and plasma of patients with hepatocellular carcinoma[J].2005,25(2).
[14]Sefrioui, David,Sarafan-Vasseur, Nasrin,Beaussire, Ludivine,etc.Clinical value of chip-based digital-PCR platform for the detection of circulating DNA in metastatic colorectal cancer[J].2015,47(10).
[15]Siravegna, Giulia,Mussolin, Benedetta,Buscarino, Michela,etc.Clonal evolution and resistance to EGFR blockade in the blood of colorectal cancer patients[J].2015,21(7).
[16]Powrozek, T.,Krawczyk, P.,Nicos, M.,etc.Methylation of the DCLK1 promoter region in circulating free DNA and its prognostic value in lung cancer patients[J].2016,18(4).
[17]Huang,G.,Krocker,J.D.,Kirk,J.L.,etc.Evaluation of INK4A promoter methylation using pyrosequencing and circulating cell-free DNA from patients with hepatocellular carcinoma[J].2014,52(6).
[18]Kropidlowski,J.,Schwarzenbach,H.,Eichelser,C.,etc.Loss of heterozygosity at tumor suppressor genes detectable on fractionated circulating cell-free tumor DNA as indicator of breast cancer progression[J].2012,18(20).
[19]Zhe, Jin,Alexandru, Olaru,Jian, Yang,etc.Hypermethylation of tachykinin-1 is a potential biomarker in human esophageal cancer.[J].2007,13(21).
[20]Zill, Oliver A.,Greene, Claire,Sebisanovic, Dragan,etc.Cell-Free DNA Next-Generation Sequencing in Pancreatobiliary Carcinomas[J].2015,5(10).
[21]Evelyn, Kidess,Kyra, Heirich,Matthew, Wiggin,etc.Mutation profiling of tumor DNA from plasma and tumor tissue of colorectal cancer patients with a novel, high-sensitivity multiplexed mutation detection platform.[J].2015,6(4).
[22]Karen Lise Garm, Spindler,Niels, Pallisgaard,Rikke Fredslund, Andersen,etc.Circulating free DNA as biomarker and source for mutation detection in metastatic colorectal cancer.[J].2015,10.
[23]Elisa, Danese,Anna Maria, Minicozzi,Marco, Benati,etc.Comparison of genetic and epigenetic alterations of primary tumors and matched plasma samples in patients with colorectal cancer.[J].2015,10(5).
[24]Gaia, Schiavon,Sarah, Hrebien,Isaac, Garcia-Murillas,etc.Analysis of ESR1 mutation in circulating tumor DNA demonstrates evolution during therapy for metastatic breast cancer.[J].2015,7(313).
[25]Hao,T.B.,Shi,W.,Shen,X.J.,etc.Circulating cell-free DNA in serum as a biomarker for diagnosis and prognostic prediction of colorectal cancer[J].2014,111(8).
[26]A, Veccia,O, Caffo,S, Girlando,etc.148P: Concordance between detection of EGFR mutations on tissue and in circulating free tumor DNA (cftDNA) in newly diagnosed metastatic lung adenocarcinoma (mLA).[J].2016.
[27]I H, Wong,Y M, Lo,J, Zhang,etc.Detection of aberrant p16 methylation in the plasma and serum of liver cancer patients.[J].1999,59(1).
[28]Michèle Beau-Faller,Marie Pierre Gaub,Anne Schneider,etc.Plasma DNA microsatellite panel as sensitive and tumor-specific marker in lung cancer patients[J].2003,105(3).
[29]Gillet,B.,Loriot,V.,Molina,F.,etc.Clinical validation of the detection of KRAS and BRAF mutations from circulating tumor DNA[J].2014,20(4).
[30]Lee TH,Chrebtow V,Busch MP,etc.Quantitation of genomic DNA in plasma and serum samples: higher concentrations of genomic DNA found in serum than in plasma.[J].2001,41(2).
[31]Taly,V.,Pekin,D.,Benhaim,L.,etc.Multiplex picodroplet digital PCR to detect KRAS mutations in circulating DNA from the plasma of colorectal cancer patients[J].2013,59(12).
[32]Yoruker, Ebru E.,Ozgur, Emre,Keskin, Metin,etc.Assessment of Circulating Serum DNA Integrity in Colorectal Cancer Patients[J].2015,35(4).
[33]Wu, Lin,Tan, Ying,Guo, Hongqiang,etc.Comparison of KRAS/BRAF mutations between primary tumors and serum in colorectal cancer: Biological and clinical implications[J].2013,5(1).
[34]Reinert, Thomas,Scholer, Lone V.,Thomsen, Rune,etc.Analysis of circulating tumour DNA to monitor disease burden following colorectal cancer surgery[J].2016,65(4).
[35]Spindler,K.-L.G.,Pallisgaard,N.,Andersen,R.F.,etc.Changes in mutational status during third-line treatment for metastatic colorectal cancer - Results of consecutive measurement of cell free DNA, KRAS and BRAF in the plasma[J].2014,135(9).
[36]Mahon,K.L.,Qu,W.,Devaney,J.,etc.Methylated Glutathione S-transferase 1 (mGSTP1) is a potential plasma free DNA epigenetic marker of prognosis and response to chemotherapy in castrate-resistant prostate cancer[J].2014,111(9).
[37]Mao,W.M.,Ling,Z.Q.,Zhou,S.L.,etc.MSH2 promoter hypermethylation in circulating tumor DNA is a valuable predictor of disease-free survival for patients with esophageal squamous cell carcinoma[J].2012,38(4).
[38]Blighe K,Coombes RC,Sharma A,etc.Detection of HER2 amplification in circulating free DNA in patients with breast cancer.[J].2011,104(8).
[39]I H, Wong,Y M, Lo,W, Yeo,etc.Frequent p15 promoter methylation in tumor and peripheral blood from hepatocellular carcinoma patients.[J].2000,6(9).
[40]Luis A, Diaz,Mark, Sausen,George A, Fisher,etc.Insights into therapeutic resistance from whole-genome analyses of circulating tumor DNA.[J].2013,4.
[41]Chao, Lv,Yuanyuan, Ma,Qin, Feng,etc.A pilot study: sequential gemcitabine/cisplatin and icotinib as induction therapy for stage IIB to IIIA non-small-cell lung adenocarcinoma.[J].2013,11.
[42]Andersen, Rikke Fredslund,Spindler, Karen-Lise Garm,Brandslund, Ivan,etc.Improved sensitivity of circulating tumor DNA measurement using short PCR amplicons[J].2015,439.
[43]Jen-Kou, Lin,Pei-Ching, Lin,Chien-Hsing, Lin,etc.Clinical relevance of alterations in quantity and quality of plasma DNA in colorectal cancer patients: based on the mutation spectra detected in primary tumors.[J].2014,21 Suppl 4.
[44]Jian-Ming, Xu,Xiao-Jing, Liu,Fei-Jiao, Ge,etc.KRAS mutations in tumor tissue and plasma by different assays predict survival of patients with metastatic colorectal cancer.[J].2014,33.
[45]Seung Tae, Kim,Won Jin, Chang,Lihua, Jin,etc.Can Serum be Used for Analyzing the KRAS Mutation Status in Patients with Advanced Colorectal Cancer?[J].2015,47(4).
[46]Kinugasa, H.,Nouso, K.,Tanaka, T.,etc.Droplet digital PCR measurement of HER2 in patients with gastric cancer[J].2015,112(10).
[47]I, Balgkouranidou,D, Matthaios,A, Karayiannakis,etc.Prognostic role of APC and RASSF1A promoter methylation status in cell free circulating DNA of operable gastric cancer patients.[J].2015,778.
[48]Xue, Yang,Minglei, Zhuo,Xin, Ye,etc.Quantification of mutant alleles in circulating tumor DNA can predict survival in lung cancer.[J].2016.
[49]Julia, Stadler,Johanna, Eder,Barbara, Pratscher,etc.SNPase-ARMS qPCR: Ultrasensitive Mutation-Based Detection of Cell-Free Tumor DNA in Melanoma Patients.[J].2015,10(11).
[50]Anders Jakobsen,Karen-Lise Garm Spindler,Niels Pallisgaard,etc.Quantitative cell-free DNA, KRAS, and BRAF mutations in plasma from patients with metastatic colorectal cancer during treatment with cetuximab and irinotecan.[J].2012,18(4).
[51]K, Mohorcic,I, Kern,M, Rot,etc.150P: EGFR mutations in circulating tumor DNA (ctDNA) and tissue rebiopsy at progression on treatment with EGFR tyrosine kinase inhibitors (TKI).[J].2016.
[52]Rebillard X,Muller I,Pantel K,etc.Identification of loss of heterozygosity on circulating free DNA in peripheral blood of prostate cancer patients: potential and technical improvements.[J].2008,54(4).
[53]Josep Tabernero,Heinz-Josef Lenz,Salvatore Siena,etc.Analysis of circulating DNA and protein biomarkers to predict the clinical activity of regorafenib and assess prognosis in patients with metastatic colorectal cancer: a retrospective, exploratory analysis of the CORRECT trial[J].2015,16(8).
[54]Park S,Kim JH,Yoon KA,etc.Comparison of circulating plasma DNA levels between lung cancer patients and healthy controls.[J].2009,11(3).
[55]Esposito,A.,Bardelli,A.,Criscitiello,C.,etc.Monitoring tumor-derived cell-free DNA in patients with solid tumors: Clinical perspectives and research opportunities[J].2014,40(5).
[56]Hoon DS,Hiramatsu SH,Giuliano AE,etc.Prediction of breast tumor progression by integrity of free circulating DNA in serum.[J].2006,24(26).
[57]Karen-Lise Garm Spindler,Niels Pallisgaard,Ane Lindegaard Appelt,etc.Clinical utility of KRAS status in circulating plasma DNA compared to archival tumour tissue from patients with metastatic colorectal cancer treated with anti-epidermal growth factor receptor therapy[J].2015,51(17).
[58]P. Bordi,M. Del Re,R. Danesi,etc.2PD Monitoring of secondary drug resistance mutations in circulating tumor DNA of patients with advanced ALK positive NSCLC[J].2016,(4).