血浆游离DNA的临床应用新进展
|
摘要
血浆游离DNA(Plasma cell-free DNA,cf-DNA)游离于细胞外的机体内源性DNA,cf-DNA广泛存在于血液、脑脊液、滑膜液、支气管肺泡灌洗液和羊水等体液中。多数血浆DNA与蛋白质结合成为复合物,仅有少部分为游离的片段,受实验方法灵敏性和特异性的限制,cf-DNA的研究进展缓慢。随着分子检测技术的发展,虽然在健康人群的血浆中也可测量到一定量的cf-DNA,但是cf-DNA被发现在肿瘤、自身免疫性疾病、创伤和炎性反应等病理过程中有改变。目前cf-DNA在肿瘤的诊断和预后分析、产前诊断、感染性疾病等中均有应用价值。
Plasma cell-free DNA(cf-DNA)is a cell-free endogenous status of extracellular DNA. Now believed cf-DNA is widely present in blood, cerebrospinal fluid, synovial fluid, bronchoalveolar lavage fluid and amniotic fluid and other body fluids. Most plasma protein binding with DNA to become complex but a few of the free fragments. The progress of cf-DNA is restricted to the sensitivity and specificity of experimental methods. With the development of molecular detection techniques, although a certain amount cf-DNA in the plasma of healthy people could be detecte, dut cf-DNA was found to have changed in the pathological process of cancer, autoimmune sieases, and inflammatory reactions in trauma. Currently cf-DNA is value in the diagnosis and prognosis of tumors analyzed, prenatal diagnosis, and other infectious diseases.
Plasma cell-free DNA(cf-DNA)is a cell-free endogenous status of extracellular DNA. Now believed cf-DNA is widely present in blood, cerebrospinal fluid, synovial fluid, bronchoalveolar lavage fluid and amniotic fluid and other body fluids. Most plasma protein binding with DNA to become complex but a few of the free fragments. The progress of cf-DNA is restricted to the sensitivity and specificity of experimental methods. With the development of molecular detection techniques, although a certain amount cf-DNA in the plasma of healthy people could be detecte, dut cf-DNA was found to have changed in the pathological process of cancer, autoimmune sieases, and inflammatory reactions in trauma. Currently cf-DNA is value in the diagnosis and prognosis of tumors analyzed, prenatal diagnosis, and other infectious diseases.
引文
[1]Mendel P,M'etais P.Les acides nucleiques du plasma sanguine chez I'homme[J].C R Hebd Seances Acad Sci(Paris),1948,142(3):241-243
[2]Gormally E,Caboux E,Vineis P,et al.Circulating free DNA in plasma or serum as biomarker of carcinogenesis practical aspects and biological significance[J].Mutat Res,2007,635(2-3):105-117
[3]Heisenach K D,Care M D,Bates JH,et al.Polymerase chain reaction amplification of a repetitive DNA sequence specific for Mycobacterium tubercubisis[J].J Infect D is,1990,161(5):977-981
[4]Ahlquist DA,Skoletsky JE,Boynton KA,et al.Colorectal cancer screening by detection of altered human DNA in stool:feasibility of a multitarget assay panel[J].Gastroenterology,2000,119(5):1219-1227
[5]Holdenrieder S,Stieber P,Chan LY,et al.Cell-free DNA in serum and plasma:comparison of ELISA and quantitative PCR[J].Clin Chem,2005,51(8):1544-1546
[6]Umetani N,Hiramatsu S,Hooon DS.Higher amount of free circulating DNA in serum than in plasma is not mainly caused by contaminated extraneous DNA during separation[J].Ann N Y Acad Sci,2006,1075(9):299-307
[7]严子禾,潘世扬,陈丹,等.4种血浆cf-DNA提取方法的比较[J].临床检验杂志,2006,24(5):363-365Yan Zi-he,Pan Shi-yang,Chen Dan,et al.Comparison of four extraction methods of plasma cf-DNA[J].Chinese Journal of Clinical Laboratory Science,2006,24(5):363-365
[8]Yang Qi-wei,Du Zhen-wu,Zhao Guan-jie,et al.Comparison of five methods of plasma DNA extraction[J].Chinese Journal of Stereology and Image Analysis,2014,19(1):84-90
[9]Wang Q,Zhang R,Xiao L,et al.Circulating nucleic acid and cancer[J].Chinese Pharmacological Bulletin,2013,29(3):307-310
[10]Li H H,Yan M,Zhou H H,et al.The effect ofβ3-AR Trp64Arg on rosiglitazone response in T2DM patients[J].Chin Pharmacol Bull,2009,25(3):317-321
[11]Sunil K Kadam,Mark Farmen,John T.Brandt.Quantitative Measurement of Cell-Free Plasma DNA and Applications for Detecting Tumor Genetic Variation and Promoter Methylation in a Clinical Setting[J].The Journal of Molecular Diagnostics,2012,14(4):346-356
[12]Shi Wei,Qi Jing,Shen Xian-juan,et al.Comparative study of two methods for detection of cell-free DNA[J].Med J of Communications,2014,28(6):579-580
[13]周政,陈大鹏.结直肠癌患者K-ras基因突变的表达及临床意义研究[J].重庆医学,2014,43(24):3133-3135Zhou Zheng,Chen Da-peng.The Clinical Significance of K-ras Mutation Detected in Plasma Cell-free DNA from Patients with Colorectal Carcinoma[J].Chongqing Medicine,2014,43(24):3133-3135
[14]张国华,戚菁,施维,等.游离DNA检测对结直肠癌诊断价值的研究[J].临床检验杂志,2012,11(3):894-895Zhang Guo-hua,Qi Jing,Shi Wei,et al.The value of the detection of free DNA in diagnosis of colorectal cancer[J].Chinese Journal of Clinical Laboratory Science,2012,11(3):894-895
[15]Llovet JM,Burroughs A,Bruix J.Hepatocellular carcinoma[J].Lancet,2003,362(9399):1907-1917
[16]Yao DF,Dong ZZ,Yao M.Specific molecular markers in hepatocellular carcinoma[J].Hepatobiliary Pancreat Dis Int,2007,6(3):241-247
[17]Alix-Panabières C,Schwarzenbach H,Pantel K.Circulating tumor cells and circulating tumor DNA[J].Annu Rev Med,2012,63:199-215
[18]Colnot S,Decaens T,Niwa-Kawakita M,et al.Liver-targeted disruption of Apc in mice activates beta-catenin signaling and leads to hepatocellular carcinomas[J].Proc Natl Acad Sci,2004,101(49):17216-17221
[19]Chen Ken,Zhang Hong,Zhang Li-na,et al.Value of circulating cell-free DNA in diagnosis ofhepatocelluar carcinoma[J].World J Gastroenterol,2013,19(20):3143-3149
[20]Boddy JL,Gal S,Malone PR,et al.Prospective study of quantitation of plasma DNA levels in the diagnosis of malignant versus benign prostate disease[J].Clin Cancer Res,2005,11(4):1394-1399
[21]Kamat AA,Baldwin M,Urbauer D,et al.Plasma cell-free DNA in ovarian cancer:an independent prognostic biomarker[J].Cancer,2010,116(8):1918-1925
[22]Catarino R,Ferreira MM,Rodrigues H,et al.Quantification of free circulating tumor DNA as a diagnostic marker for breast cancer[J].DNA Cell Biol,2008,27(8):415-421
[23]Wimberger P,Roth C,Pantel K,et al.Impact of platinumbased chemotherapy on circulating nucleic acid levels,protease activities in blood and disseminated tumor cells in bone marrow of ovarian cancer patients[J].Int J Cancer,2011,128(11):2572-2580
[24]Jung K,Stephan C,Lewandowski M,et al.Increased cell-free DNA in plasma of patients with metastatic spread in prostate cancer[J].Cancer Lett,2004,205(2):173-180
[25]Shapiro B,Chakrabarty M,Cohn EM,et al.Determination of circulating DNA levels in patients with benign or malignant gastrointestinal disease[J].Cancer,1983,51(11):2116-2120
[26]Sozzi G,Conte D,Mariani L,et al.Analysis of circulating tumor DNA in plasma at diagnosis and during follow-up of lung cancer patients[J].Cancer Res,2001,61(12):4675-4678
[27]Trejo-Becerril C,Pérez-Cárdenas E,et al.Circulating nucleosomes and response to chemotherapy:an in vitro,in vivo,and clinical study on cervical cancer patients[J].Int J Cancer,2003,104(6):663-638
[28]Chang HW,Lee SM,Goodman SN,et al.Assessmentofplasma DNAlevels,allelicimbalance,and CA125 as diagnostic tests for cancer[J].J Natl Cancer Inst,2002,94(22):1697-1703
[29]Huang ZH,Li LH,Hua D.Quantitative analysis of plasma circulating DNA at diagnosis and during follow-up of breast cancer patients[J].Cancer Lett,2006,243(1):64-70
[30]Ellinger J,Wittkamp V,Albers P,et al.Cell-free circulating DNA:diagnostic value in patients with testicular germ cell cancer[J].J Urol,2009,181(1):363-371
[31]Ellinger J,Bastian PJ,Ellinger N,et al.Apoptotic DNA fragments in serum of patients with muscle invasive bladder cancer:a prognostic entity[J].Cancer Lett,2008,264(2):274-280
[32]Oka D,Yamashita S,Tomioka T,et al.The presence of aberrant DNA methylation in noncancerous esophageal mucosae in association with smoking history:a target for risk diagnosis and prevention of esophageal cancers[J].Cancer,2009,115(15):3412-3426
[33]Mandelker DL,Yamashita K,Tokumaru Y,et al.5 promoter methylation is an independent prognostic factor for esophageal squamous cell carcinoma[J].Cancer Res,2005,65(11):4963-4968
[34]张胜利,朱宝生.母血浆中胎儿游离DNA检测及非侵入性产前诊断的研究进展[J].中国产前诊断杂志,2013,5(2):26-33Zhang Sheng-li,Zhu Bao-sheng.The research of detection of cf-DNA in maternal plasmer and non-invasive diagnostic prenatal[J].Chinese Journal of prenatal diagnosis,2013,5(2):26-33
[35]Scheffe PG,van der schoot-ce,Page-Christiaens GC,et al.Noninvasive fetal blood group genotyping of rhesus D,c,E and of K in alloimmunised pregnant women:evaluation of a 7-year clinical experience[J].BJOG,2011,118(11):1340-1348
[36]Geifman-Holtzman O,Ober Berman J.Prenatal diagonosis:update on invasive versus noninvasive fetal diagnostic testing from maternal blood[J].Expert Rev Mol Diagn,2008,8(6):727-751
[37]Bianchi DW,Platt LD,Goldberg JD,et al.Mat Ernal Blood is source to accurately diagnose fetal aneuploidy Study Group.Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing[J].Obstet Gynecol,2012,119(5):890-901
[38]王超,苗齐.mi RNA在心肌梗死和心力衰竭中的作用[J].基础医学与临床,2013,33(4):508-511Wang Chao,Miao Qi.Effect of mi RNAs in myocardial infarction and heart failure[J].Basic and Clinical Medicine,2013,33(4):508-511
[39]栾云,刘晓程,张兆华,等.骨髓间充质干细胞移植治疗小型猪急性心肌梗死[J].基础医学与临床,2011,31:1156-1158Luan Yun,Liu Xiao-cheng,Zhang Zhao-hua,et al.Bone marrow mesenchymal stem cells transplantation for the treatment of mini pigs with acute myocardial infarction[J].Basic and Clinical Medicine,2011,31:1156-1158
[40]牛家峰,贾磊,李雪,等.高血压脑出血患者脑脊液中游离DNA动态检测的意义[J].Int J Lab Med,2014,35(20):2779-2780Niu Jia-feng,Jia Lei,Li Xue,et al.Significance of dynamic detection of free DNA in hypertensive cerebral hemorrhage[J].Int J Lab Med,2014,35(20):2779-2780
[41]Rodrigues Filho EM1,Simon D,Ikuta N,et al.Elevated cell-free plasma DNA level as an independent predictor of mortality in patients with severe traumatic brain injury[J].Chin J Neurosurg Dis Res,2014,13(3):255-258
[42]Wagner J.Free DNA-new potential analyte in clinical laboratory diagnostics?[J].Biochem Med(Zagreb),2012,22(1):24-38
[43]Akirav EM,Lebastchi J,Galvan EM,et al.Detection ofβcell death in diabetes using different ially methylated circulating DNA[J].Proc Natl Acad Sci USA,2011,108(47):19018-19023
[44]Kotsch K,Mashreghi MF,Bold G,et al.Enhanced granulysin m RNA expression in yrinary sediment in early and delayed acute renal stion[J].Transplantation,2004,77(12):1866-1875
[2]Gormally E,Caboux E,Vineis P,et al.Circulating free DNA in plasma or serum as biomarker of carcinogenesis practical aspects and biological significance[J].Mutat Res,2007,635(2-3):105-117
[3]Heisenach K D,Care M D,Bates JH,et al.Polymerase chain reaction amplification of a repetitive DNA sequence specific for Mycobacterium tubercubisis[J].J Infect D is,1990,161(5):977-981
[4]Ahlquist DA,Skoletsky JE,Boynton KA,et al.Colorectal cancer screening by detection of altered human DNA in stool:feasibility of a multitarget assay panel[J].Gastroenterology,2000,119(5):1219-1227
[5]Holdenrieder S,Stieber P,Chan LY,et al.Cell-free DNA in serum and plasma:comparison of ELISA and quantitative PCR[J].Clin Chem,2005,51(8):1544-1546
[6]Umetani N,Hiramatsu S,Hooon DS.Higher amount of free circulating DNA in serum than in plasma is not mainly caused by contaminated extraneous DNA during separation[J].Ann N Y Acad Sci,2006,1075(9):299-307
[7]严子禾,潘世扬,陈丹,等.4种血浆cf-DNA提取方法的比较[J].临床检验杂志,2006,24(5):363-365Yan Zi-he,Pan Shi-yang,Chen Dan,et al.Comparison of four extraction methods of plasma cf-DNA[J].Chinese Journal of Clinical Laboratory Science,2006,24(5):363-365
[8]Yang Qi-wei,Du Zhen-wu,Zhao Guan-jie,et al.Comparison of five methods of plasma DNA extraction[J].Chinese Journal of Stereology and Image Analysis,2014,19(1):84-90
[9]Wang Q,Zhang R,Xiao L,et al.Circulating nucleic acid and cancer[J].Chinese Pharmacological Bulletin,2013,29(3):307-310
[10]Li H H,Yan M,Zhou H H,et al.The effect ofβ3-AR Trp64Arg on rosiglitazone response in T2DM patients[J].Chin Pharmacol Bull,2009,25(3):317-321
[11]Sunil K Kadam,Mark Farmen,John T.Brandt.Quantitative Measurement of Cell-Free Plasma DNA and Applications for Detecting Tumor Genetic Variation and Promoter Methylation in a Clinical Setting[J].The Journal of Molecular Diagnostics,2012,14(4):346-356
[12]Shi Wei,Qi Jing,Shen Xian-juan,et al.Comparative study of two methods for detection of cell-free DNA[J].Med J of Communications,2014,28(6):579-580
[13]周政,陈大鹏.结直肠癌患者K-ras基因突变的表达及临床意义研究[J].重庆医学,2014,43(24):3133-3135Zhou Zheng,Chen Da-peng.The Clinical Significance of K-ras Mutation Detected in Plasma Cell-free DNA from Patients with Colorectal Carcinoma[J].Chongqing Medicine,2014,43(24):3133-3135
[14]张国华,戚菁,施维,等.游离DNA检测对结直肠癌诊断价值的研究[J].临床检验杂志,2012,11(3):894-895Zhang Guo-hua,Qi Jing,Shi Wei,et al.The value of the detection of free DNA in diagnosis of colorectal cancer[J].Chinese Journal of Clinical Laboratory Science,2012,11(3):894-895
[15]Llovet JM,Burroughs A,Bruix J.Hepatocellular carcinoma[J].Lancet,2003,362(9399):1907-1917
[16]Yao DF,Dong ZZ,Yao M.Specific molecular markers in hepatocellular carcinoma[J].Hepatobiliary Pancreat Dis Int,2007,6(3):241-247
[17]Alix-Panabières C,Schwarzenbach H,Pantel K.Circulating tumor cells and circulating tumor DNA[J].Annu Rev Med,2012,63:199-215
[18]Colnot S,Decaens T,Niwa-Kawakita M,et al.Liver-targeted disruption of Apc in mice activates beta-catenin signaling and leads to hepatocellular carcinomas[J].Proc Natl Acad Sci,2004,101(49):17216-17221
[19]Chen Ken,Zhang Hong,Zhang Li-na,et al.Value of circulating cell-free DNA in diagnosis ofhepatocelluar carcinoma[J].World J Gastroenterol,2013,19(20):3143-3149
[20]Boddy JL,Gal S,Malone PR,et al.Prospective study of quantitation of plasma DNA levels in the diagnosis of malignant versus benign prostate disease[J].Clin Cancer Res,2005,11(4):1394-1399
[21]Kamat AA,Baldwin M,Urbauer D,et al.Plasma cell-free DNA in ovarian cancer:an independent prognostic biomarker[J].Cancer,2010,116(8):1918-1925
[22]Catarino R,Ferreira MM,Rodrigues H,et al.Quantification of free circulating tumor DNA as a diagnostic marker for breast cancer[J].DNA Cell Biol,2008,27(8):415-421
[23]Wimberger P,Roth C,Pantel K,et al.Impact of platinumbased chemotherapy on circulating nucleic acid levels,protease activities in blood and disseminated tumor cells in bone marrow of ovarian cancer patients[J].Int J Cancer,2011,128(11):2572-2580
[24]Jung K,Stephan C,Lewandowski M,et al.Increased cell-free DNA in plasma of patients with metastatic spread in prostate cancer[J].Cancer Lett,2004,205(2):173-180
[25]Shapiro B,Chakrabarty M,Cohn EM,et al.Determination of circulating DNA levels in patients with benign or malignant gastrointestinal disease[J].Cancer,1983,51(11):2116-2120
[26]Sozzi G,Conte D,Mariani L,et al.Analysis of circulating tumor DNA in plasma at diagnosis and during follow-up of lung cancer patients[J].Cancer Res,2001,61(12):4675-4678
[27]Trejo-Becerril C,Pérez-Cárdenas E,et al.Circulating nucleosomes and response to chemotherapy:an in vitro,in vivo,and clinical study on cervical cancer patients[J].Int J Cancer,2003,104(6):663-638
[28]Chang HW,Lee SM,Goodman SN,et al.Assessmentofplasma DNAlevels,allelicimbalance,and CA125 as diagnostic tests for cancer[J].J Natl Cancer Inst,2002,94(22):1697-1703
[29]Huang ZH,Li LH,Hua D.Quantitative analysis of plasma circulating DNA at diagnosis and during follow-up of breast cancer patients[J].Cancer Lett,2006,243(1):64-70
[30]Ellinger J,Wittkamp V,Albers P,et al.Cell-free circulating DNA:diagnostic value in patients with testicular germ cell cancer[J].J Urol,2009,181(1):363-371
[31]Ellinger J,Bastian PJ,Ellinger N,et al.Apoptotic DNA fragments in serum of patients with muscle invasive bladder cancer:a prognostic entity[J].Cancer Lett,2008,264(2):274-280
[32]Oka D,Yamashita S,Tomioka T,et al.The presence of aberrant DNA methylation in noncancerous esophageal mucosae in association with smoking history:a target for risk diagnosis and prevention of esophageal cancers[J].Cancer,2009,115(15):3412-3426
[33]Mandelker DL,Yamashita K,Tokumaru Y,et al.5 promoter methylation is an independent prognostic factor for esophageal squamous cell carcinoma[J].Cancer Res,2005,65(11):4963-4968
[34]张胜利,朱宝生.母血浆中胎儿游离DNA检测及非侵入性产前诊断的研究进展[J].中国产前诊断杂志,2013,5(2):26-33Zhang Sheng-li,Zhu Bao-sheng.The research of detection of cf-DNA in maternal plasmer and non-invasive diagnostic prenatal[J].Chinese Journal of prenatal diagnosis,2013,5(2):26-33
[35]Scheffe PG,van der schoot-ce,Page-Christiaens GC,et al.Noninvasive fetal blood group genotyping of rhesus D,c,E and of K in alloimmunised pregnant women:evaluation of a 7-year clinical experience[J].BJOG,2011,118(11):1340-1348
[36]Geifman-Holtzman O,Ober Berman J.Prenatal diagonosis:update on invasive versus noninvasive fetal diagnostic testing from maternal blood[J].Expert Rev Mol Diagn,2008,8(6):727-751
[37]Bianchi DW,Platt LD,Goldberg JD,et al.Mat Ernal Blood is source to accurately diagnose fetal aneuploidy Study Group.Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing[J].Obstet Gynecol,2012,119(5):890-901
[38]王超,苗齐.mi RNA在心肌梗死和心力衰竭中的作用[J].基础医学与临床,2013,33(4):508-511Wang Chao,Miao Qi.Effect of mi RNAs in myocardial infarction and heart failure[J].Basic and Clinical Medicine,2013,33(4):508-511
[39]栾云,刘晓程,张兆华,等.骨髓间充质干细胞移植治疗小型猪急性心肌梗死[J].基础医学与临床,2011,31:1156-1158Luan Yun,Liu Xiao-cheng,Zhang Zhao-hua,et al.Bone marrow mesenchymal stem cells transplantation for the treatment of mini pigs with acute myocardial infarction[J].Basic and Clinical Medicine,2011,31:1156-1158
[40]牛家峰,贾磊,李雪,等.高血压脑出血患者脑脊液中游离DNA动态检测的意义[J].Int J Lab Med,2014,35(20):2779-2780Niu Jia-feng,Jia Lei,Li Xue,et al.Significance of dynamic detection of free DNA in hypertensive cerebral hemorrhage[J].Int J Lab Med,2014,35(20):2779-2780
[41]Rodrigues Filho EM1,Simon D,Ikuta N,et al.Elevated cell-free plasma DNA level as an independent predictor of mortality in patients with severe traumatic brain injury[J].Chin J Neurosurg Dis Res,2014,13(3):255-258
[42]Wagner J.Free DNA-new potential analyte in clinical laboratory diagnostics?[J].Biochem Med(Zagreb),2012,22(1):24-38
[43]Akirav EM,Lebastchi J,Galvan EM,et al.Detection ofβcell death in diabetes using different ially methylated circulating DNA[J].Proc Natl Acad Sci USA,2011,108(47):19018-19023
[44]Kotsch K,Mashreghi MF,Bold G,et al.Enhanced granulysin m RNA expression in yrinary sediment in early and delayed acute renal stion[J].Transplantation,2004,77(12):1866-1875