Progress of Research on Cell Free DNA in Head and Neck Squamous Cell Carcinoma

doi:10.3969/j.issn.1005-4979.2020.02.010

Abstract

Abstract:

In recent years, cfDNA(cell free DNA, cfDNA) liquid biopsy is rapidly becoming an adjunct for standard tumor biopsy. As a noninvasive and rapid tool, it has been used in diagnostics, post treatment surveillance and assessment of drug resistance in head and neck squamous cell carcinoma（HNSCC）. This paper summarizes the characteristics, extraction and detection, clinical application and function of cfDNA in HNSCC, which provides a theoretical basis for clinical treatment and scientific research of HNSCC.

Key words: cell free DNA, head and neck squamous cell carcinoma(HNSCC), tumor heterogeneity, tumor immunity, liquid biopsy

摘要：

近年来，循环游离DNA（cell free DNA，cfDNA）的液体活检已成为诊断癌症的辅助手段。由于该手段具有无创、快速等优点，它在头颈鳞状细胞癌（head and neck squamous cell carcinoma, HNSCC）诊断、治疗后监测及耐药性检测等方面的作用日益突出。本文对cfDNA的生物特性、提取与检测、在HNSCC中的临床应用，以及在HNSCC中发生、发展的作用进行综述，以期为相关科学研究和临床治疗提供思路。

关键词: 循环游离DNA, 头颈鳞状细胞癌, 肿瘤异质性, 肿瘤免疫, 液体活检

CLC Number:

R739.8

ZHENG Shize, QIAO Chunyan, MENG Lin, REN Feilong, LI Weibo, REN Chunxia, CHEN Yumeng, SUN Hongchen. Progress of Research on Cell Free DNA in Head and Neck Squamous Cell Carcinoma[J]. 《Journal of Oral and Maxillofacial Surgery》, 2020, 30(2): 110-116.

郑适泽, 乔春燕, 孟琳, 任飞龙, 李玮柏, 任春霞, 陈雨蒙, 孙宏晨. 循环游离DNA在头颈鳞状细胞癌中的研究进展[J]. 《口腔颌面外科杂志》, 2020, 30(2): 110-116.

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URL: https://journal06.magtech.org.cn/Jweb_joms/EN/10.3969/j.issn.1005-4979.2020.02.010

https://journal06.magtech.org.cn/Jweb_joms/EN/Y2020/V30/I2/110

References 64

[1]	Marur S, Forastiere AA. Head and neck squamous cell carcinoma: update on epidemiology, diagnosis, and treatment[J]. Mayo Clin Proc, 2016, 91(3):386-396. doi: 10.1016/j.mayocp.2015.12.017 pmid: 26944243
[2]	Mermod M, Tolstonog G, Simon C, et al. Extracapsular spread in head and neck squamous cell carcinoma: a systematic review and meta-analysis[J]. Oral Oncol, 2016, 62: 60-71. doi: S1368-8375(16)30179-8 pmid: 27865373
[3]	Swiecicki PL, Brennan JR, Mierzwa M, et al. Head and neck squamous cell carcinoma detection and surveillance: advances of liquid biomarkers[J]. Laryngoscope, 2019, 129(8):1836-1843. doi: 10.1002/lary.27725
[4]	Di Meo A, Bartlett J, Cheng Y, et al. Liquid biopsy: a step forward towards precision medicine in urologic malignancies[J]. Mol Cancer, 2017, 16(1):80. doi: 10.1186/s12943-017-0644-5 pmid: 28410618
[5]	Jia S, Zhang R, Li Z, et al. Clinical and biological significance of circulating tumor cells, circulating tumor DNA, and exosomes as biomarkers in colorectal cancer[J]. Oncotarget, 2017, 8(33):55632-55645. doi: 10.18632/oncotarget.17184 pmid: 28903450
[6]	Sumanasuriya S, Lambros MB, de Bono JS. Application of liquid biopsies in cancer targeted therapy[J]. Clin Pharmacol Ther, 2017, 102(5):745-747. doi: 10.1002/cpt.764 pmid: 28755443
[7]	Murtaza M, Dawson SJ, Tsui DW, et al. Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA[J]. Nature, 2013, 497(7447):108-112. doi: 10.1038/nature12065
[8]	Alix-Panabières C, Pantel K. Real-time liquid biopsy: circulating tumor cells versus circulating tumor DNA[J]. Ann Transl Med, 2013, 1(2):18. doi: 10.3978/j.issn.2305-5839.2013.06.02 pmid: 25332962
[9]	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. doi: 10.1007/s10555-016-9629-x URL
[10]	Viorritto IC, Nikolov NP, Siegel RM. Autoimmunity versus tolerance: can dying cells tip the balance[J]. Clin Immunol, 2007, 122(2):125-134. pmid: 17029966
[11]	Holdenrieder S, Stieber P. Clinical use of circulating nucleosomes[J]. Crit Rev Clin Lab Sci, 2009, 46(1):1-24. doi: 10.1080/10408360802485875 URL
[12]	Delgado PO, Alves BC, Gehrke Fde S, et al. Characterization of cell-free circulating DNA in plasma in patients with prostate cancer[J]. Tumour Biol, 2013, 34(2):983-986. doi: 10.1007/s13277-012-0634-6 URL
[13]	Jahr S, Hentze H, Englisch S, et al. DNA fragments in the blood plasma of cancer patients: quantitations and evidence for their origin from apoptotic and necrotic cells[J]. Cancer Res, 2001, 61(4):1659-1665. pmid: 11245480
[14]	Bergsbaken T, Fink SL, Cookson BT. Pyroptosis: host cell death and inflammation[J]. Nat Rev Microbiol, 2009, 7(2):99-109. doi: 10.1038/nrmicro2070 pmid: 19148178
[15]	Fink SL, Cookson BT. Apoptosis, pyroptosis, and necrosis: mechanistic description of dead and dying eukaryotic cells[J]. Infect Immun, 2005, 73(4):1907-1916. doi: 10.1128/IAI.73.4.1907-1916.2005 pmid: 15784530
[16]	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. doi: 10.2165/11631380-000000000-00000 pmid: 22694348
[17]	Mouliere F, Thierry AR. The importance of examining the proportion of circulating DNA originating from tumor, microenvironment and normal cells in colorectal cancer patients[J]. Expert Opin Biol Ther, 2012, 12(Suppl 1):S209-S215. doi: 10.1517/14712598.2012.688023 URL
[18]	D'Souza-Schorey C, Clancy JW. Tumor-derived microvesicles: shedding light on novel microenvironment modulators and prospective cancer biomarkers[J]. Genes Dev, 2012, 26(12):1287-1299. doi: 10.1101/gad.192351.112 URL
[19]	Lee Y, El Andaloussi S, Wood MJ. Exosomes and microvesicles: extracellular vesicles for genetic information transfer and gene therapy[J]. Hum Mol Genet, 2012, 21(R1):R125-R134. doi: 10.1093/hmg/dds317 URL
[20]	Turturici G, Tinnirello R, Sconzo G, et al. Extracellular membrane vesicles as a mechanism of cell-to-cell communication: advantages and disadvantages[J]. Am J Physiol, Cell Physiol, 2014, 306(7):C621-C633. doi: 10.1152/ajpcell.00228.2013 URL
[21]	Thierry AR, Mouliere F, Gongora C, et al. Origin and quantification of circulating DNA in mice with human colorectal cancer xenografts[J]. Nucleic Acids Res, 2010, 38(18):6159-6175. doi: 10.1093/nar/gkq421 pmid: 20494973
[22]	Wang Y, Springer S, Mulvey CL, et al. Detection of somatic mutations and HPV in the saliva and plasma of patients with head and neck squamous cell carcinomas[J]. Sci Transl Med, 2015, 7(293):293ra104.
[23]	Lin LH, Chang KW, Kao SY, et al. Increased plasma circulating cell-free DNA could be a potential marker for oral cancer[J]. Int J Mol Sci, 2018, 19(11):E3303.
[24]	Mazurek AM, Rutkowski T, Fiszer-Kierzkowska A, et al. Assessment of the total cfDNA and HPV16/18 detection in plasma samples of head and neck squamous cell carcinoma patients[J]. Oral Oncol, 2016, 54: 36-41. doi: 10.1016/j.oraloncology.2015.12.002 pmid: 26786940
[25]	Tissot C, Toffart AC, Villar S, et al. Circulating free DNA concentration is an independent prognostic biomarker in lung cancer[J]. Eur Respir J, 2015, 46(6):1773-1780. doi: 10.1183/13993003.00676-2015 pmid: 26493785
[26]	Leon SA, Shapiro B, Sklaroff DM, et al. Free DNA in the serum of cancer patients and the effect of therapy[J]. Cancer Res, 1977, 37(3):646-650. pmid: 837366
[27]	Thornton B, Basu C. Real-time PCR (qPCR) primer design using free online software[J]. Biochem Mol Biol Educ, 2011, 39(2):145-154. doi: 10.1002/bmb.v39.2 URL
[28]	Endris V, Penzel R, Warth A, et al. Molecular diagnostic profiling of lung cancer specimens with a semiconductor-based massive parallel sequencing approach: feasibility, costs, and performance compared with conventional sequencing[J]. J Mol Diagn, 2013, 15(6):765-775. doi: 10.1016/j.jmoldx.2013.06.002 pmid: 23973117
[29]	Diaz LA Jr, Bardelli A. Liquid biopsies: genotyping circulating tumor DNA[J]. J Clin Oncol, 2014, 32(6):579-586. doi: 10.1200/JCO.2012.45.2011 pmid: 24449238
[30]	Fassunke J, Ihle MA, Lenze D, et al. EGFR T790M mutation testing of non-small cell lung cancer tissue and blood samples artificially spiked with circulating cell-free tumor DNA: results of a round robin trial[J]. Virchows Arch, 2017, 471(4):509-520. doi: 10.1007/s00428-017-2226-8 URL
[31]	Volckmar AL, Sültmann H, Riediger A, et al. A field guide for cancer diagnostics using cell-free DNA: from principles to practice and clinical applications[J]. Genes Chromosomes Cancer, 2018, 57(3):123-139. doi: 10.1002/gcc.v57.3 URL
[32]	Bartels S, Persing S, Hasemeier B, et al. Molecular analysis of circulating cell-free DNA from lung cancer patients in routine laboratory practice: a cross-platform comparison of three different molecular methods for mutation detection[J]. J Mol Diagn, 2017, 19(5):722-732. doi: S1525-1578(17)30213-1 pmid: 28723342
[33]	Abbosh C, Birkbak NJ, Wilson GA, et al. Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution[J]. Nature, 2017, 545(7655):446-451. doi: 10.1038/nature22364 URL
[34]	Xu T, Kang X, You X, et al. Cross-platform comparison of four leading technologies for detecting EGFR mutations in circulating tumor DNA from non-small cell lung carcinoma patient plasma[J]. Theranostics, 2017, 7(6):1437-1446. doi: 10.7150/thno.16558 URL
[35]	Vogelstein B, Kinzler KW. Digital PCR[J]. Proc Natl Acad Sci USA, 1999, 96(16):9236-9241. doi: 10.1073/pnas.96.16.9236 pmid: 10430926
[36]	Oshiro C, Kagara N, Naoi Y, et al. PIK3CA mutations in serum DNA are predictive of recurrence in primary breast cancer patients[J]. Breast Cancer Res Treat, 2015, 150(2):299-307. doi: 10.1007/s10549-015-3322-6 URL
[37]	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.
[38]	Christensen E, Birkenkamp-Demtröder K, Nordentoft I, et al. Liquid biopsy analysis of FGFR3 and PIK3CA hotspot mutations for disease surveillance in bladder cancer[J]. Eur Urol, 2017, 71(6):961-969. doi: S0302-2838(16)30920-4 pmid: 28069289
[39]	Day E, Dear PH, McCaughan F. Digital PCR strategies in the development and analysis of molecular biomarkers for personalized medicine[J]. Methods, 2013, 59(1):101-107. doi: 10.1016/j.ymeth.2012.08.001 pmid: 22926236
[40]	Rachiglio AM, Esposito Abate R, Sacco A, et al. Limits and potential of targeted sequencing analysis of liquid biopsy in patients with lung and colon carcinoma[J]. Oncotarget, 2016, 7(41):66595-66605. doi: 10.18632/oncotarget.10704 pmid: 27448974
[41]	Newman AM, Lovejoy AF, Klass DM, et al. Integrated digital error suppression for improved detection of circulating tumor DNA[J]. Nat Biotechnol, 2016, 34(5):547-555. doi: 10.1038/nbt.3520 pmid: 27018799
[42]	Phallen J, Sausen M, Adleff V, et al. Direct detection of early-stage cancers using circulating tumor DNA[J]. Sci Transl Med, 2017, 9(403):eaan2415.
[43]	Dietz S, Schirmer U, Mercé C, et al. Low input whole-exome sequencing to determine the representation of the tumor exome in circulating DNA of non-small cell lung cancer patients[J]. PLoS One, 2016, 11(8):e0161012. DOI:10.1371/journal.pone.0161012. URL
[44]	Leary RJ, Kinde I, Diehl F, et al. Development of personalized tumor biomarkers using massively parallel sequencing[J]. Sci Transl Med, 2010, 2(20):20ra14.
[45]	徐婧, 周有连, 徐豪明, 等. 循环游离DNA在结直肠癌诊疗中的应用进展[J]. 广东医学, 2019, 40(19):2701-2704.
[46]	Chuang AY, Chuang TC, Chang S, et al. Presence of HPV DNA in convalescent salivary rinses is an adverse prognostic marker in head and neck squamous cell carcinoma[J]. Oral Oncol, 2008, 44(10):915-919. doi: 10.1016/j.oraloncology.2008.01.001 pmid: 18329326
[47]	Rave-Fränk M. Tumour-derived plasma cell-free DNA in patients with head and neck cancer: a short review[J]. Cancer Radiother, 2017, 21(6-7):554-556. doi: S1278-3218(17)30332-3 pmid: 28847459
[48]	Sun W, Zaboli D, Wang H, et al. Detection of TIMP3 promoter hypermethylation in salivary rinse as an independent predictor of local recurrence-free survival in head and neck cancer[J]. Clin Cancer Res, 2012, 18(4):1082-1091. doi: 10.1158/1078-0432.CCR-11-2392 pmid: 22228635
[49]	Rettori MM, de Carvalho AC, Bomfim Longo AL, et al. Prognostic significance of TIMP3 hypermethylation in post-treatment salivary rinse from head and neck squamous cell carcinoma patients[J]. Carcinogenesis, 2013, 34(1):20-27. doi: 10.1093/carcin/bgs311 pmid: 23042095
[50]	Schröck A, Leisse A, de Vos L, et al. Free-circulating methylated DNA in blood for diagnosis, staging, prognosis, and monitoring of head and neck squamous cell carcinoma patients: an observational prospective cohort study[J]. Clin Chem, 2017, 63(7):1288-1296. doi: 10.1373/clinchem.2016.270207 pmid: 28515105
[51]	Hamana K, Uzawa K, Ogawara K, et al. Monitoring of circulating tumour-associated DNA as a prognostic tool for oral squamous cell carcinoma[J]. Br J Cancer, 2005, 92(12):2181-2184. doi: 10.1038/sj.bjc.6602635
[52]	Cancer Genome Atlas Network. Comprehensive genomic characterization of head and neck squamous cell carcinomas[J]. Nature, 2015, 517(7536):576-582. doi: 10.1038/nature14129
[53]	Goyal L, Saha SK, Liu LY, et al. Polyclonal secondary FGFR2 mutations drive acquired resistance to FGFR inhibition in patients with FGFR2 Fusi on- positive cholangiocarcinoma[J]. Cancer Discov, 2017, 7(3):252-263. doi: 10.1158/2159-8290.CD-16-1000 URL
[54]	Corcoran RB, Chabner BA. Application of cell-free DNA analysis to cancer treatment[J]. N Engl J Med, 2018, 379(18):1754-1765. doi: 10.1056/NEJMra1706174 URL
[55]	Bendich A, Wilczok T, Borenfreund E. Circulating DNA as a possible factor in oncogenesis[J]. Science, 1965, 148(3668):374-376. pmid: 14261529
[56]	García-Olmo DC, Picazo MG, García-Olmo D. Transformation of non-tumor host cells during tumor progression: theories and evidence[J]. Expert Opin Biol Ther, 2012, 12(Suppl 1):S199-S207. doi: 10.1517/14712598.2012.681370 URL
[57]	Anker P, Lyautey J, Lefort F, et al. Transformation of NIH/3T3 cells and SW 480 cells displaying K-ras mutation[J]. C R Acad Sci Ⅲ, 1994, 317(10):869-874.
[58]	García-Olmo DC, Domínguez C, García-Arranz M, et al. Cell-free nucleic acids circulating in the plasma of colorectal cancer patients induce the oncogenic transformation of susceptible cultured cells[J]. Cancer Res, 2010, 70(2):560-567. doi: 10.1158/0008-5472.CAN-09-3513 pmid: 20068178
[59]	Napirei M, Karsunky H, Zevnik B, et al. Features of systemic lupus erythematosus in Dnase1-deficient mice[J]. Nat Genet, 2000, 25(2):177-181. doi: 10.1038/76032 pmid: 10835632
[60]	贺智凤. TLR3、TLR7、TLR9信号通路对口腔鳞癌发展过程的影响[D]. 南京: 南京大学, 2013.
[61]	Marsman G, Zeerleder S, Luken BM. Extracellular histones, cell-free DNA, or nucleosomes: differences in immunostimulation[J]. Cell Death Dis, 2016, 7(12):e2518. DOI:10.1038/cddis.2016.410.
[62]	Wei H, Hongya P, Linlin J, et al. IFN-γ enhances the anti-tumour immune response of dendritic cells against oral squamous cell carcinoma[J]. Arch Oral Biol, 2011, 56(9):891-898. doi: 10.1016/j.archoralbio.2011.02.008 pmid: 21474117
[63]	Waldvogel Abramowski S, Tirefort D, Lau P, et al. Cell-free nucleic acids are present in blood products and regulate genes of innate immune response[J]. Transfusion, 2018, 58(7):1671-1681. doi: 10.1111/trf.14613 pmid: 29664127
[64]	Marcuzzi E, Angioni R, Molon B, et al. Chemokines and chemokine receptors: orchestrating tumor metastasization[J]. Int J Mol Sci, 2018, 20(1):E96.

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