中文English
ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 36 Issue 12
Dec.  2020
Turn off MathJax
Article Contents

Application of circulating free DNA in the diagnosis and treatment of hepatocellular carcinoma

DOI: 10.3969/j.issn.1001-5256.2020.12.041
Research funding:

 

  • Received Date: 2020-05-29
  • Published Date: 2020-12-20
  • Hepatocellular carcinoma has a low early diagnostic rate,and there is a lack of highly sensitive and specific tumor markers. In recent years,fluid biopsy technique,represented by circulating free DNA( cfDNA),has become an auxiliary method for the diagnosis of cancer and has attracted more and more attention due to its advantages of noninvasiveness,convenience,and repeatability. With reference to the recent studies in China and foreign countries,this article summarizes and analyzes the advances in cfDNA in the diagnosis and treatment of hepatocellular carcinoma from the aspects of biological characteristics,detection techniques,and clinical application,so as to provide a basis for clinical diagnosis and treatment.

     

  • loading
  • [1] VILLANUEVA A. Hepatocellular carcinoma[J]. N Engl J Med,2019,380(15):1450-1462.
    [2] Global Burden of Disease Liver Cancer Col aboration,AKINYEMIJU T,ABERA S,et al. The burden of primary liver cancer and underlying etiologies from 1990 to 2015 at the global,regional,and national level:Results from the Global Burden of Disease Study2015[J]. JAMA Oncol,2017,3(12):1683-1691.
    [3] BRAY F,FERLAY J,SOERJOMATARAM I,et al. Global cancer statistics 2018:GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries[J]. CA Cancer J Clin,2018,68(6):394-424.
    [4] CHEN W,ZHENG R,BAADE PD,et al. Cancer statistics in China,2015[J]. CA Cancer J Clin,2016,66(2):115-132.
    [5] EL-SERAG HB,MARRERO JA,RUDOLPH L,et al. Diagnosis and treatment of hepatocellular carcinoma[J]. Gastroenterology,2008,134(6):1752-1763.
    [6] SEOANE J,de MATTOS-ARRUDA L,LE RHUN E,et al. Cerebrospinal fluid cell-free tumour DNA as a liquid biopsy for primary brain tumours and central nervous system metastases[J]. Ann Oncol,2019,30(2):211-218.
    [7] MANDEL P,MTAIS P. Les acides nucléiques du plasma sanguin chez l'homme[J]. Cr Acad Sci Paris,1948,142(3-4):241-243.
    [8] WALDRON D. Cancer genomics:A nucleosome footprint reveals the source of cfDNA[J]. Nat Rev Genet,2016,17(3):125.
    [9] MOULIERE F,CHANDRANANDA D,PISKORZ AM,et al. Enhanced detection of circulating tumor DNA by fragment size analysis[J]. Sci Transl Med,2018,10(466):eaat4921.
    [10] DIAZ LA Jr,BARDELLI A. Liquid biopsies:Genotyping circulating tumor DNA[J]. J Clin Oncol,2014,32(6):579-586.
    [11] SNYDER MW,KIRCHER M,HILL AJ,et al. Cell-free DNA comprises an in vivo nucleosome footprint that informs its tissues-of-origin[J]. Cell,2016,164(1-2):57-68.
    [12] TUG S,HELMIG S,DEICHMANN ER,et al. Exercise-induced increases in cell free DNA in human plasma originate predominantly from cells of the haematopoietic lineage[J].Exerc Immunol Rev,2015,21:164-173.
    [13] LEHMANN-WERMAN R,NEIMAN D,ZEMMOUR H,et al. Identification of tissue-specific cell death using methylation patterns of circulating DNA[J]. Proc Natl Acad Sci U S A,2016,113(13):e1826-e1834.
    [14] BREITBACH S,TUG S,SIMON P. Circulating cell-free DNA:An up-coming molecular marker in exercise physiology[J].Sports Med,2012,42(7):565-586.
    [15] CROWLEY E,di NICOLANTONIO F,LOUPAKIS F,et al. Liquid biopsy:Monitoring cancer-genetics in the blood[J]. Nat Rev Clin Oncol,2013,10(8):472-484.
    [16] THIERRY AR,EL MESSAOUDI S,GAHAN PB,et al. Origins,structures,and functions of circulating DNA in oncology[J].Cancer Metastasis Rev,2016,35(3):347-376.
    [17] TAMKOVICH SN,CHEREPANOVA AV,KOLESNIKOVA EV,et al. Circulating DNA and DNase activity in human blood[J].Ann N Y Acad Sci,2006,1075:191-196.
    [18] HOLDENRIEDER S,STIEBER P,BODENMLLER H,et al.Nucleosomes in serum of patients with benign and malignant diseases[J]. Int J Cancer,2001,95(2):114-120.
    [19] PETERS DL,PRETORIUS PJ. Origin,translocation and destination of extracellular occurring DNA-a new paradigm in genetic behaviour[J]. Clin Chim Acta,2011,412(11-12):806-811.
    [20] HOLMGREN L,BERGSMEDH A,SPETZ AL. Horizontal transfer of DNA by the uptake of apoptotic bodies[J]. Vox Sang,2002,83(Suppl 1):305-306.
    [21] EMMANOUILIDI A,PALADIN D,GREENING DW,et al. Oncogenic and non-malignant pancreatic exosome cargo reveal distinct expression of oncogenic and prognostic factors involved in tumor invasion and metastasis[J]. Proteomics,2019,19(8):e1800158.
    [22] SANTOS C,AZUARA D,VIITEZ JM,et al. Phase II study of high-sensitivity genotyping of KRAS, NRAS, BRAF and PIK3CA to ultra-select metastatic colorectal cancer patients for panitumumab plus FOLFIRI:The ULTRA trial[J]. Ann Oncol,2019,30(5):796-803.
    [23] RAZAVI P,LI BT,BROWN DN,et al. High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants[J]. Nat Med,2019,25(12):1928-1937.
    [24] CHAUDHURI AA,BINKLEY MS,OSMUNDSON EC,et al. Predicting radiotherapy responses and treatment outcomes through analysis of circulating tumor DNA[J]. Semin Radiat Oncol,2015,25(4):305-312.
    [25] CAO Z,WANG J,QIN N,et al. Clinical value of droplet digital PCR and super-ARMS detection of epidermal growth factor receptor gene mutation in plasma circulating tumor DNA of patients with advanced lung adenocarcinoma[J]. Chin J Lung Cancer,2020,23(2):84-90.(in Chinese)曹喆,王静,秦娜,等.微滴数字PCR和Super-ARMS检测晚期肺腺癌患者血浆循环肿瘤DNA表皮生长因子受体基因突变的临床价值研究[J].中国肺癌杂志,2020,23(2):84-90.
    [26] BUSSER B,LUPO J,SANCEY L,et al. Plasma circulating tumor DNA levels for the monitoring of melanoma patients:Landscape of available technologies and clinical applications[J]. Biomed Res Int,2017,2017:5986129.
    [27] LI YQ,SONG SS,JIANG SH,et al. Combination therapy of erlotinib/crizotinib in a lung adenocarcinoma patient with primary EGFR mutation plus secondary MET amplification and a novel acquired crizotinib-resistant mutation MET G1108C[J]. Ann Oncol,2017,28(10):2622-2624.
    [28] GARLAN F,LAURENT-PUIG P,SEFRIOUI D,et al. Early evaluation of circulating tumor DNA as marker of therapeutic efficacy in metastatic colorectal cancer patients(PLACOL Study)[J]. Clin Cancer Res,2017,23(18):5416-5425.
    [29] THIERRY AR,MOULIERE F,el MESSAOUDI S,et al. Clinical validation of the detection of KRAS and BRAF mutations from circulating tumor DNA[J]. Nat Med,2014,20(4):430-435.
    [30] FENG WN,GU WQ,ZHAO N,et al. Comparison of the superARMS and droplet digital PCR for detecting EGFR mutation in ctDNA from NSCLC patients[J]. Transl Oncol,2018,11(2):542-545.
    [31] LI C,HE Q,LIANG H,et al. Diagnostic accuracy of droplet digital PCR and amplification refractory mutation system PCR for detecting EGFR mutation in cell-free DNA of lung cancer:A Meta-analysis[J]. Front Oncol,2020,10:290.
    [32] MARKOU A,TZANIKOU E,LADAS I,et al. Nuclease-assisted minor allele enrichment using overlapping probes-assisted amplification-refractory mutation system:An approach for the improvement of amplification-refractory mutation systempolymerase chain reaction specificity in liquid biopsies[J]. Anal Chem,2019,91(20):13105-13111.
    [33] CAI Z,CHEN G,ZENG Y,et al. Comprehensive liquid profiling of circulating tumor DNA and protein biomarkers in longterm follow-up patients with hepatocellular carcinoma[J].Clin Cancer Res,2019,25(17):5284-5294.
    [34] JIANG P,CHAN CW,CHAN KC,et al. Lengthening and shortening of plasma DNA in hepatocellular carcinoma patients[J]. Proc Natl Acad Sci U S A,2015,112(11):e1317-e1325.
    [35] KISIEL JB,DUKEK BA,V S R KANIPAKAM R,et al. Hepatocellular carcinoma detection by plasma methylated DNA:Discovery,phase I pilot,and phase II clinical validation[J].Hepatology,2019,69(3):1180-1192.
    [36] COHEN JD,LI L,WANG Y,et al. Detection and localization of surgically resectable cancers with a multi-analyte blood test[J]. Science,2018,359(6378):926-930.
    [37] XU RH,WEI W,KRAWCZYK M,et al. Circulating tumour DNA methylation markers for diagnosis and prognosis of hepatocellular carcinoma[J]. Nat Mater,2017,16(11):1155-1161.
    [38] LI F,QIAO CY,GAO S,et al. Circulating cell-free DNA of methylated insulin-like growth factor-binding protein 7 predicts a poor prognosis in hepatitis B virus-associated hepatocellular carcinoma after hepatectomy[J]. Free Radic Res,2018,52(4):455-464.
    [39] MARCHIO A,AMOUGOU ATSAMA M,BRA,et al. Droplet digital PCR detects high rate of TP53 R249S mutants in cellfree DNA of middle African patients with hepatocellular carcinoma[J]. Clin Exp Med,2018,18(3):421-431.
    [40] NG C,di COSTANZO GG,TOSTI N,et al. Genetic profiling using plasma-derived cell-free DNA in therapy-nave hepatocellular carcinoma patients:A pilot study[J]. Ann Oncol,2018,29(5):1286-1291.
    [41] RUMIATO E,BOLDRIN E,MALACRIDA S,et al. Detection of genetic alterations in cfDNA as a possible strategy to monitor the neoplastic progression of Barrett’s esophagus[J]. Transl Res,2017,190:16-24.
    [42] IKEDA S,LIM JS,KURZROCK R. Analysis of tissue and circulating tumor DNA by next-generation sequencing of hepatocellular carcinoma:Implications for targeted therapeutics[J]. Mol Cancer Ther,2018,17(5):1114-1122.
    [43] CAI ZX,CHEN G,ZENG YY,et al. Circulating tumor DNA profiling reveals clonal evolution and real-time disease progression in advanced hepatocellular carcinoma[J]. Int J Cancer,2017,141(5):977-985.
    [44] IKEDA S,TSIGELNY IF,SKJEVIKA,et al. Next-generation sequencing of circulating tumor DNA reveals frequent alterations in advanced hepatocellular carcinoma[J]. Oncologist,2018,23(5):586-593.
  • 加载中

Catalog

    通讯作者: 陈斌, bchen63@163.com
    • 1. 

      沈阳化工大学材料科学与工程学院 沈阳 110142

    1. 本站搜索
    2. 百度学术搜索
    3. 万方数据库搜索
    4. CNKI搜索

    Article Metrics

    Article views (581) PDF downloads(76) Cited by()
    Proportional views
    Related

    /

    DownLoad:  Full-Size Img  PowerPoint
    Return
    Return