The research progress of clinical application on circulating tumor DNA

doi:10.3877/cma.j.issn.2095-5820.2015.02.004

Abstract

Abstract:

Circulating tumor DNA is a kind of double stranded DNA fragments released by tumor cells. Numerous studies have confirmed that the genetic massage by ctDNA in tumor patients has good consistency with the tumor tissues, which can overcome the unsolvable issue of tumor heterogeneity. The ctDNA analysis of peripheral circulation samples can be used to monitor mutation changes of the primary as well as tumor metastasis and recurrence during the course of disease, and provide complementary tools in early diagnosis, monitoring the therapeutic responseand prognosis of cancer, especially for the patients who have received targeted therapies,thereby promoting the implementation of precision medicine. As a new method as liquid biopsy, ctDNA detection not only has broad application prospects in the field of diagnosis and treatment of cancer patients, but also is an important impetus to promote the progress of basic tumor research.

Key words: Circulating tumor DNA, Genic mutation, Metatasis, Prognosis, Therapeutic response monitoring, Precision medicine

Meng Zhao, Qian Yu, Wei Guo. The research progress of clinical application on circulating tumor DNA[J]. Chinese Journal of Clinical Laboratory Management(Electronic Edition), 2015, 03(02): 77-82.

/ / Recommend

Add to citation manager EndNote|Ris|BibTeX

URL: https://zhlcsysgldzzz.cma-cmc.com.cn/EN/10.3877/cma.j.issn.2095-5820.2015.02.004

https://zhlcsysgldzzz.cma-cmc.com.cn/EN/Y2015/V03/I02/77

References 48

17	Leszinski G, Lehner J, Gezer U, et al. Increased DNA integrity in colorectal cancer[J]. In Vivo, 2014,28(3):299-303.
18	Madhavan D, Wallwiener M, Bents K, et al. Plasma DNA integrity as a biomarker for primary and metastatic breast cancer and potential marker for early diagnosis[J]. Breast Cancer Res Treat,2014,146(1):163-174.
19	Gao YJ, He YJ, Yang ZL, et al. Increased integrity of circulating cellfree DNA in plasma of patients with acute leukemia[J]. Clin Chem Lab Med, 2010,48(11):1651-1656.
20	Da Siliva Fihe BF, Gurgel AP, Neto MA, et al. Circulating cell-free DNA in serum as a biomarker of colorectal cancer[J]. J Clin Pathol,2013,66(9):775-778.
21	Sriram KB, Relan V, Clarke BE, et al. Pleural fluid cell-free DNA integrity index to identify cytologically negative malignant pleural effusions including mesotheliomas[J]. BMC Cancer, 2012,12:428.
22	Rolfo C, Castiglia M, Hong D, et al. Liquid biopsies in lung cancer: the new ambrosia of researchers[J]. Biochim Biophys Acta,2014,1846(2):539-546.
23	Lavon I, Refael M, Zelikovitch B, et al. Serum DNA can define tumor-specific genetic and epigenetic markers in gliomas of various grades[J]. Neuro Oncol, 2010,12(2):173-180.
24	Sriram KB, Relan V, Clarke BE, et al. Pleural fluid cell-free DNA integrity index to identify cytologically negative malignant pleural effusions including mesotheliomas[J]. BMC Cancer, 2012,12:428.
25	Grutzmann R, Molnar B, Pilarsky C, et al. Sensitive detection of colorectal cancer in peripheral blood by septin 9 DNA methylation assay[J]. PLoS One, 2008,3(11):e3759.
26	Warren JD, Xiong W, Bunker AM, et al. Septin 9 methylated DNA is a sensitive and specific blood test for colorectal cancer[J]. BMC Med,2011,9:133.
27	Church TR, Wandell M, Lofton-Day C, et al. Prospective evaluation of methylated SEPT9 in plasma for detection of asymptomatic colorectal cancer[J]. Gut, 2014,63(2):317-325.
28	Bearzatto A, Conte D, Frattini M, et al. p16(INK4A) Hypermethylation detected by fluorescent methylation-specific PCR in plasmas from non-small cell lung cancer[J]. Clin Cancer Res, 2002,8(12):3782-3787.
29	Zhang Y, Wang R, Song H, et al. Methylation of multiple genes as a candidate biomarker in non-small cell lung cancer[J]. Cancer Lett,2011,303(1):21-28.
30	Ponomaryova AA, Rykova EY, Cherdyntseva NV, et al. Potentialities of aberrantly methylated circulating DNA for diagnostics and post-treatment follow-up of lung cancer patients[J]. Lung Cancer,2013,81(3):397-403.
31	Kneip C, Schmidt B, Seegebarth A, et al. SHOX2 DNA methylation is a biomarker for the diagnosis of lung cancer in plasma[J]. J Thorac Oncol, 2011,6(10):1632-1638.
32	Powrozek T, Krawczyk P, Kucharczyk T, et al. Septin 9 promoter region methylation in free circulating DNA-potential role in noninvasive diagnosis of lung cancer: preliminary report[J]. Med Oncol, 2014,31(4):917.
33	Nones K, Waddell N, Song S, et al. Genome-wide DNA methylation patterns in pancreatic ductal adenocarcinoma reveal epigenetic deregulation of SLIT-ROBO, ITGA2 and MET signaling[J]. Int J Cancer, 2014,135(5):1110-1118.
34	Zhang Q, Hu G, Yang Q, et al. A multiplex methylation-specific PCR assay for the detection of early-stage ovarian cancer using cell-free serum DNA[J]. Gynecol Oncol, 2013,130(1):132-139.
35	Kim K, Shin DG, Park MK, et al. Circulating cell-free DNA as a promising biomarker in patients with gastric cancer: diagnostic validity and significant reduction of cfDNA after surgical resection[J].Ann Surg Treat Res, 2014,83(3)136-142.
36	Dawson SJ, Tsui DW, Murtaza M, et al. Analysis of circulating tumor DNA to monitor metastatic breast cancer[J]. N Engl J Med,2013,368(13):1199-1209.
37	Forshew T, Murtaza M, Parkinson C, et al. Noninvasive identification and monitoring of cancer mutations by targeted deep sequencing of plasma DNA[J]. Sci Transl Med, 2012,4(136): 136ra168.
38	Lecomte T, Berger A, Zinzindohoue F, et al. Detection of freecirculating tumor-associated DNA in plasma of colorectal cancer patients and its association with prognosis[J]. Int J Cancer,2002,100(5):542-548.
39	Spindler KL, Pallisgaard N, Vogelius I, et al. Quantitative cell-free DNA, KRAS, and BRAF mutations in plasma from patients with metastatic colorectal cancer during treatment with cetuximab and irinotecan[J]. Clin Cancer Res, 2012,18(4):1177-1185.
40	Dawson SJ, Tsui DW, Murtaza M, et al. Analysis of circulating tumor DNA to monitor metastatic breast cancer[J]. N Engl J Med,2013,368(13):1199-1209.
41	Bidard FC, Madic J, Mariani P, et al. Detection rate and prognostic value of circulating tumor cells and circulating tumor DNA in metastatic uveal melanoma[J]. Int J Cancer, 2014,134(5):1207-1213.
42	Punnoose EA, Atwal S, Liu W, et al. Evaluation of circulating tumor cells and circulating tumor DNA in non-small cell lung cancer:association with clinical endpoints in a phase II clinical trial of pertuzumab and erlotinib[J]. Clin Cancer Res, 2012,18(8):2391-2401.
43	Zhang J, Fujimoto J, Zhang J, et al. Intratumor heterogeneity in localized lung adenocarcinomas delineated by multiregion sequencing[J]. Science, 2014,346(6206):256-259.
44	Gerlinger M, Horswell S, Larkin J, et al. Genomic architecture and evolution of clear cell renal cell carcinomas defined by multiregion sequencing[J]. Nat Genet, 2014,46(3):225-233.
1	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.
2	Stroun M, Anker P, Maurice P, et al. Neoplastic characteristics of the DNA found in the plasma of cancer patients[J]. Oncology,1989,46(5):318-322.
3	Fujiwara K, Fujimoto N, Tabata M, et al. Identification of epigenetic aberrant promoter methylation in serum DNA is useful for early detection of lung cancer[J]. Clin Cancer Res, 2005,11(3):1219-1225.
4	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.
5	Stroun M, Lyautey J, Lederrey C, et al. Alu repeat sequences are present in increased proportions compared to a unique gene in plasma/serum DNA: evidence for a preferential release from viable cells[J]?Ann N Y Acad Sci, 2001,945:258-264.
6	Diehl F, Schmidt K, Choti MA, et al. Circulating mutant DNA to assess tumor dynamics[J]. Nat Med, 2008,14(9):985-990.
7	Yu SC, Lee SW, Jiang P, et al. High-resolution profiling of fetal DNA clearance from maternal plasma by massively parallel sequencing[J].Clin Chem, 2013,59(8):1228-1237.
8	Cherepanova AV, Tamkovich SN, Bryzgunova OE, et al.Deoxyribonuclease activity and circulating DNA concentration in blood plasma of patients with prostate tumors[J]. Ann N Y Acad Sci,2008,1137:218-221.
9	Lee TH, Montalvo L, Chrebtow V, et al. Quantitation of genomic DNA in plasma and serum samples: higher concentrations of genomic DNA found in serum than in plasma[J]. Transfusion, 2001,41(2):276-282.
10	Sonnenberg A, Marciniak JY, Rassenti L, et al. Rapid electrokinetic isolation of cancer-related circulating cell-Free DNA directly from blood[J]. Clin Chem, 2014,60(3):500-509.
11	Xue X, Teare MD, Holen I, et al. Optimizing the yield and utility of circulating cell-free DNA from plasma and serum[J]. Clin Chim Acta,2009,404(2):100-104.
12	Devonshire AS, Whale AS, Gutteridge A, et al. Towards standardisation of cell-free DNA measurement in plasma: controls for extraction efficiency, fragment size bias and quantification[J]. Anal Bioanal Chem, 2014,406(26):6499-6512.
13	Taly V, Pekin D, Benhaim L, et al. Multiplex picodroplet digital PCR to detect KRAS mutations in circulating DNA from the plasma of colorectal cancer patients[J]. Clin Chem, 2013,59(12): 1722-1731.
14	Chandrananda D, Thorne NP, Bahlo M. High-resolution characterization of sequence signatures due to non-random cleavage of cell-free DNA[J]. BMC Med Genomics, 2015,8:29.
15	Oxnard GR, Paweletz CP, Kuang Y, et al. Noninvasive detection of response and resistance in EGFR-mutant lung cancer using quantitative next-generation genotyping of cell-free plasma DNA[J]. Clin Cancer Res, 2014,20(6):1698-1705.
16	Yoruker EE, Ozgur E, Keskin M, et al. Assessment of circulating serum DNA integrity in colorectal cancer patients[J]. Anticancer Res,2015,35(4):2435-2440.
45	Swanton C. Intratumor Heterogeneity: Evolution through Space and Time[J]. Cancer Res, 2012,72(19):4875-4882.
46	Amir E, Miller N, Geddie W, et al. Prospective study evaluating the impact of tissue confirmation of metastatic disease in patients with breast cancer[J]. J Clin Oncol, 2012,30(6):587-592.
47	Colombino M, Capone M, Lissia A, et al. BRAF/NRAS mutation frequencies among primary tumors and metastases in patients with melanoma[J]. J Clin Oncol, 2012,30(20):2522-2529.
48	Diaz LA Jr, Williams RT, Wu J, et al. The molecular evolution of acquired resistance to targeted EGFR blockade in colorectal cancers[J].Nature, 2012,486(7404):537-540.

[1]	Xiaoyu Zhang, Yulai Yin, Yinxu Zhang. Efficacy and prognostic analysis of apatinib combined with neoadjuvant chemotherapy in triple negative breast cancer [J]. Chinese Journal of Breast Disease(Electronic Edition), 2024, 18(06): 346-352.
[2]	Jie Xu, Yajun Li, Junwei Han. Comparison of the efficacy of radical laparoscopic total gastrectomy in the treatment of overweight gastric cancer with two approaches [J]. Chinese Journal of Operative Procedures of General Surgery(Electronic Edition), 2025, 19(01): 19-22.
[3]	Jiehong Gao, Pingping Li, Jing Qi, Yinhai Dai. Study on the relationship between the expression of ETFA gene and clinicopathological parameters and prognosis in breast cancer [J]. Chinese Journal of Operative Procedures of General Surgery(Electronic Edition), 2025, 19(01): 64-67.
[4]	Daiqin Li, Peijie Liu. Value of dynamic enhanced magnetic resonance imaging in evaluating the efficacy and prognosis of middle and advanced low rectal cancer after concurrent chemoradiotherapy [J]. Chinese Journal of Operative Procedures of General Surgery(Electronic Edition), 2025, 19(01): 100-103.
[5]	Xiangyu Qu, Yigang Zhang, Haoling Li, Tian Qiu, Yi Tan. Diagnostic and prognostic role of USP24 and its co-expression of tumor metabolic genes in hepatocellular carcinoma [J]. Chinese Journal of Operative Procedures of General Surgery(Electronic Edition), 2024, 18(06): 659-662.
[6]	Wen Gu, Shouxin Ling, Haili Tang, Xuemei Gan. Comparison of two different surgical approaches for open radical surgery in patients with papillary thyroid cancer [J]. Chinese Journal of Operative Procedures of General Surgery(Electronic Edition), 2024, 18(06): 687-690.
[7]	Chengwang Fu, Dagang Yang, Rong Wang, Futang Li. Research progress of nutritional and inflammatory markers in resectable pancreatic cancer [J]. Chinese Journal of Operative Procedures of General Surgery(Electronic Edition), 2024, 18(06): 704-708.
[8]	Mengjie Liang, Huanhuan Zhu, Xingzhou Wang, Hang Jiang, Shichao Ai, Feng Sun, Peng Song, Meng Wang, Song Liu, Xuefeng Xia, Junfeng Du, Shuang Fu, Xiaofeng Lu, Xiaofei Shen, Wenxian Guan. Analysis of prognosis and postoperative complications of gastric cancer patients undergoing conversion therapy with combined immunotherapy [J]. Chinese Journal of Operative Procedures of General Surgery(Electronic Edition), 2024, 18(06): 619-623.
[9]	Zhizhao Zhang, Rui Wang, Pingping Gao, Chengfang Wang, Cheng Wang, Xiaowei Qi. Relationship between DNMT3B and prognosis of breast cancer and its biological mechanism [J]. Chinese Journal of Operative Procedures of General Surgery(Electronic Edition), 2024, 18(06): 624-629.
[10]	Wei Li, Zijian Song, Yancheng Lai, Rui Zhou, Han Wu, Longxin Deng, Rui Chen. The current state and prospects of artificial intelligence applied to prognosis prediction in prostate cancer patients [J]. Chinese Journal of Endourology(Electronic Edition), 2024, 18(06): 541-546.
[11]	Zun Chen, Ping Wang, Hua Jin, Meiling Zhou, Qingqing Li, Yonggang Huang. Application of sarcopenia in predicting incisional hernia after colorectal cancer surgery [J]. Chinese Journal of Hernia and Abdominal Wall Surgery(Electronic Edition), 2024, 18(06): 639-644.
[12]	Xiaoling Guan, Wenying Zhou, Hongping Chen. Predictive value of PTAAR for short-term prognosis of patients with hepatitis B virus-related acuteon-chronic liver failure [J]. Chinese Journal of Hepatic Surgery(Electronic Edition), 2024, 13(06): 841-845.
[13]	Runjin Zhang, Pan Yang, Yansi Lin, Zunlong Liu, Jianping Liu, Xiaoyan Jin. Epstein-Barr virus-associated cholangiocarcinoma complicated with multiple metastases: a case report and Chinese literature review [J]. Chinese Journal of Hepatic Surgery(Electronic Edition), 2024, 13(06): 865-869.
[14]	Xiaopeng Chen, Jiani Wang, Qinghai Lian, Jiumei Yang. Expression of VOPP1 in hepatocellular carcinoma and its relationship with prognosis [J]. Chinese Journal of Hepatic Surgery(Electronic Edition), 2024, 13(06): 876-882.
[15]	Zhaorong Guo, Xinguang Wang, Yiqiang Liu, Yingjian He, Lize Wang, Yang Yang, Xing Wang, Wei Cao, Chongshan Gu, Tie Fan, Jinfeng Li, Zhaoqing Fan. Clinicopathologic characteristics and prognostic risk factors of different subtypes of phyllodes tumor of the breast [J]. Chinese Journal of Clinicians(Electronic Edition), 2024, 18(06): 524-532.

Please choose a citation manager

Content to export