Quantification of concentration and assessment of EGFR mutation in circulating DNA

Cancer Biomarkers

Volumn 15, Issue 4, 2015, Pages 515-524

  Mazurek, Agnieszka ^a   Pierzyna, Magdalena ^a   Giglok, Monika ^a   Dworzecka, Urszula ^a   Suwiński, Rafał ^a   Małusecka, Ewa ^a  

^a INSTITUTE OF ONCOLOGY   (Poland)

Author keywords

cell free DNA; chemotherapy; Circulating DNA; liquid biopsy; lung cancer

Indexed keywords

ANTINEOPLASTIC AGENT; CIRCULATING DNA; DNA; TELOMERASE REVERSE TRANSCRIPTASE; UNCLASSIFIED DRUG; VASCULOTROPIN RECEPTOR; EGFR PROTEIN, HUMAN; EPIDERMAL GROWTH FACTOR RECEPTOR; PROTEIN KINASE INHIBITOR;

ADULT; ADVANCED CANCER; ARTICLE; CANCER CHEMOTHERAPY; CANCER PATIENT; CANCER RECURRENCE; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DISTANT METASTASIS; DNA SEQUENCE; EXON; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENOTYPE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSTICS; NON SMALL CELL LUNG CANCER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECURRENT DISEASE; SMALL CELL LUNG CANCER; SMOKING; SQUAMOUS CELL CARCINOMA; TISSUE SECTION; BLOOD; GENETICS; LUNG NEOPLASMS; MUTATION; PATHOLOGY;

DNA, NEOPLASM; FEMALE; HUMANS; LUNG NEOPLASMS; MALE; MUTATION; PROTEIN KINASE INHIBITORS; RECEPTOR, EPIDERMAL GROWTH FACTOR;

EID: 84931051590     PISSN: 15740153     EISSN: 18758592     Source Type: Journal    
DOI: 10.3233/CBM-150471     Document Type: Article

References (68)

1. P. Anker, J. Lyautey, C. Lederrey, M. Stroun, Circulating nucleic acids in plasma or serum. Clin Chim Acta 313 (2001), 143-6.
2. A. Antonicelli, S. Cafarotti, A. Indini, A. Galli, A. Russo, A. Cesario, F.M. Lococo, P. Russo, A.F. Mainini, L.G. Bonifati, M. Nosotti, L. Santambrogio, S. Margaritora, P.M. Granone, AE. Dutly, EGFR-targeted therapy for non-small cell lung cancer: focus on EGFR oncogenic mutation. Int J Med Sci 10 (2013), 320-30.
3. P.J. Bastian, G.S. Palapattu, S. Yegnasubramanian, X. Lin, C.G. Rogers, L.A. Mangold, B. Trock, M. Eisenberger, A.W. Partin, W.G. Nelson, Prognostic value of preoperative serum cell-free circulating DNA in men with prostate cancer undergoing radical prostatectomy. Clin Cancer Res 15 (2007), 5361-7.
4. M. Beau-Faller, M.P. Gaub, A. Schneider, X. Ducrocq, G. Massard, B. Gasser, M.P. Chenard, R. Kessler, P. Anker, M. Stroun, E. Weitzenblum, G. Pauli, J.M. Wihlm, E. Quoix, P. Oudet Plasma DNA microsatellite panel as sensitive and tumor-specific marker in lung cancer patients. Int J Cancer 3 (2003), 361-70.
5. H.A. Brokx, C. Kooi, R. van den Berg, D.A. Heideman, P.J. Snijders, K. Grünberg, E. Thunissen, P.E. Postmus, T.G. Sutedja, Circulating plasma DNA is not an early marker for HRCT and FDG-PET scan occult intraluminal squamous cell lung cancer lesions. J Thorac Oncol 2 (2007), P1-183.
6. A.N. Butt, R. Swaminathan, Overview of circulating nucleic acids in plasma/serum. Ann N Y Acad Sci 1137 (2008), 236-42.
7. R.B. Capone, S.I. Pail, W.M. Koch, M.L. Gillison, H.N. Danish, W.H. Westra, R. Daniel, K.V. Shah, D. Sidransky, Detection and quantitation of human papillomavirus (HPV) DNA in the sera of patients with HPV-associated head and neck squamous cell carcinoma. Clin Cancer Res 6 (2000), 4171-5.
8. R. Catarino, A. Coelho, A. Araújo, M. Gomes, A. Nogueira, C. Lopes, R. Medeiros, Circulating DNA: diagnostic tool and predictive marker for overall survival of NSCLC patients. PLoS One 7 (2012).
9. R. Catarino, A. Coelho, R. Medeiros, Circulating DNA and NSCLC: old findings with new perspectives. J Thorac Dis 5 (2012), 442-3.
10. C. Cheng, M. Omura-Minamisawa, Y. Kang, T. Hara, I. Koike, T. Inoue, Quantification of circulating cell-free DNA in the plasma of cancer patients during radiation therapy. Cancer Sci 100 (2009), 303-9.
11. S. Couraud, F. Vaca-Paniagua, S. Villar, J. Oliver, T. Schuster, H. Blanché, N. Girard, J. Trédaniel, L. Guilleminault, R. Gervais, N. Prim, M. Vincent, J. Margery, S. Larivé, P. Foucher, B. Duvert, M. Vallee, F. Le Calvez-Kelm, J. McKay, P. Missy, F. Morin, G. Zalcman, M. Olivier, P.J. Souquet, BioCAST/IFCT-1002 investigators, Noninvasive diagnosis of actionable mutations by deep sequencing of circulating free DNA in lung cancer from never-smokers: A proof-of-concept study from BioCAST/IFCT-1002. Clin Cancer Res. 20 (2014), 4613-24.
12. P. Crosbie, R. Shah, Y. Summers, C. Dive, F. Blackhall, Prognostic and predictive biomarkers in early stage NSCLC: CTCs and serum/plasma markers. Transl Lung Cancer Res 5 (2013), 382-397.
13. F. Diehl, K. Schmidt, M.A. Choti, K. Romans, S. Goodman, M. Li, K. Thornton, N. Agrawal, L. Sokoll, S.A. Szabo, K.W. Kinzler, B. Vogelstein, L.A. Diaz Jr., Circulating mutant DNA to assess tumor dynamics. Nat Med 14 (2008), 985-90.
14. R. Divella, S. Tommasi, R. Lacalamita, A. Daniele,I. Abbate, V.M. Garrisi, E. Savino, M. Coviello, V. Rubini, G. Simone, A. Paradiso, M. Quaranta, Circulating hTERT DNA in early breast cancer. Anticancer Res 29 (2009), 2845-50.
15. K. Endo, A. Konishi, H. Sasaki, M. Takada, H. Tanaka, M. Okumura, M. Kawahara, H. Sugiura, Y. Kuwabara, I. Fukai, A. Matsumura, M. Yano, Y. Kobayashi, K. Mizuno, H. Haneda, E. Suzuki, K. Iuchi, Y. Fujii, Epidermal growth factor receptor gene mutation in non-small cell lung cancer using highly sensitive and fast TaqMan PCR assay. Lung Cancer 50 (2005), 375-84.
16. M. Fleischhacker, B. Schmidt, Circulating nucleic acids (CNAs) and cancer - a survey. Biochim Biophys Acta 1775 (2007), 181-232.
17. P.B. Gahan, Circulating nucleic acids in plasma and serum: diagnosis and prognosis in cancer. EPMA J 1 (2010), 503-12.
18. O. Gautschi, C. Bigosch, B. Huegli, M. Jermann, A. Marx, E. Chassé, D. Ratschiller, W. Weder, M. Joerger, D.C. Betticher, R.A. Stahel, A. Ziegler, Circulating deoxyribonucleic Acid as prognostic marker in non-small-cell lung cancer patients undergoing chemotherapy. J Clin Oncol 22 (2004), 4157-64.
19. J.A. González-Masiá, D. García-Olmo, D.C. García-Olmo, Circulating nucleic acids in plasma and serum (CNAPS): applications in oncology. Onco Targets Ther 6 (2013), 819-32.
20. E. Gormally, E. Caboux, P. Vineis, P. Hainaut, Circulating free DNA in plasma or serum as biomarker of carcinogenesis: Practical aspects and biological significance. Mutat Res 635 (2007), 105-17.
21. E. Gormally, P. Vineis, G. Matullo, F. Veglia, E. Caboux, E. Le Roux, M. Peluso, S. Garte, S. Guarrera, A. Munnia, L. Airoldi, H. Autrup, C. Malaveille, A. Dunning, K. Overvad, A. Tjønneland, E. Lund, F Clavel-Chapelon, H. Boeing, A. Trichopoulou, D. Palli, V. Krogh, R. Tumino, S. Panico, H. B. Bueno-de-Mesquita, P.H. Peeters, G. Pera, C. Martinez, M. Dorronsoro, A. Barricarte, C. Navarro, J.R. Quirós, G. Hallmans, N.E. Day, T.J. Key, R. Saracci, R. Kaaks, E. Riboli, P. Hainaut, TP53 and KRAS2 mutations in plasma DNA of healthy subjects and subsequent cancer occurrence: a prospective study. Cancer Res 66 (2006), 6871-6.
22. K. Goto, Y. Ichinose, Y. Ohe, N. Yamamoto, S. Negoro, K. Nishio, Y. Itoh, H. Jiang, E. Duffield, R. McCormack, N. Saijo, T. Mok, M. Fukuoka, Epidermal growth factor receptor mutation status in circulating free DNA in serum: from IPASS, a phase III study of gefitinib or carboplatin/paclitaxel in non-small cell lung cancer. J Thorac Oncol 7 (2012), 115-21.
23. S. Holdenrieder, P. Stieber, L.Y. Chan, S. Geiger, A. Kremer, D. Nagel, Y.M. Lo, Cell-free DNA in serum and plasma: comparison of ELISA and quantitative PCR. Clin Chem 51 (2005), 1544-6.
24. D. Jin, S. Xie, Z. Mo, Y. Liang, B. Guo, G. Huang, J. Dong, Circulating DNA-important biomarker of cancer. J Mol Biomarkers Diagn S2: 009 (2012).
25. M. Jung, S. Klotzek, M. Lewandowski, M. Fleischhacker, K. Jung, Changes in concentration of DNA in serum and plasma during storage of blood samples. Clin Chem 49 (2003), 1028-9.
26. V.L. Keedy, S. Temin, M.R. Somerfield, M.B. Beasley, D.H. Johnson, L.M. McShane, D.T. Milton, J.R. Strawn, H.A. Wakelee, G. Giaccone, American Society of Clinical Oncology provisional clinical opinion: epidermal growth factor receptor (EGFR) Mutation testing for patients with advanced non-small-cell lung cancer considering first-line EGFR tyrosine kinase inhibitor therapy. J Clin Oncol 29 (2011), 2121-7.
27. H.R. Kim, S.Y. Lee, D.S. Hyun, M.K. Lee, H.K. Lee, C.M. Choi, S.H. Yang, Y.C. Kim, Y.C. Lee, S.Y. Kim, S.H. Jang, J.C. Lee, K.Y. Lee, Detection of EGFR mutations in circulating free DNA by PNA-mediated PCR clamping. Exp Clin Cancer Res 32 (2013).
28. H. Kimura, K. Kasahara, M. Kawaishi, H. Kunitoh, T. Tamura, B. Holloway, K. Nishio, Detection of epidermal growth factor receptor mutations in serum as a predictor of the response to gefitinib in patients with non-small-cell lung cancer. Clin Cancer Res 12 (2006), 3915-21.
29. C. Kohler, R. Radpour, Z. Barekati, R. Asadollahi, J. Bitzer, E. Wight, N. Bürki, C. Diesch, W. Holzgreve, X.Y. Zhong, Levels of plasma circulating cell free nuclear and mitochondrial DNA as potential biomarkers for breast tumors. Mol Cancer 8 (2009).
30. S. Kumar, R. Guleria, V. Singh, A.C. Bharti, A. Mohan, B.C. Das, Plasma DNA level in predicting therapeutic efficacy in advanced nonsmall cell lung cancer. Eur Respir J 36 (2010), 885-92.
31. Y.J. Lee, K.A. Yoon, J.Y. Han, H.T. Kim, T. Yun, G.K. Lee, H.Y. Kim, J.S. Lee, Circulating cell-free DNA in plasma of never smokers with advanced lung adenocarcinoma receiving gefitinib or standard chemotherapy as first-line therapy. Clin Cancer Res 17 (2011), 5179-87.
32. H. Linardou, I.J. Dahabreh, D. Kanaloupiti, F. Siannis, D. Bafaloukos, P. Kosmidis, C.A. Papadimitriou, S. Murra, Assessment of somatic k-RAS mutations as a mechanism associated with resistance to EGFR-targeted agents: a systematic review and meta-analysis of studies in advanced non-small-cell lung cancer and metastatic colorectal cancer. Lancet Oncol 9 (2008), 962-72.
33. V. Ludovini, L. Pistola, V. Gregorc, I. Floriani, E. Rulli, S. Piattoni, L. Di Carlo, A. Semeraro, S. Darwish, F.R. Tofanetti, L. Stocchi, Z. Mihaylova, G. Belezza, R. Del Sordo, G. Daddi, L. Crinò, M. Tonato, Plasma DNA, microsatellite alterations, and p53 tumor mutations are associated with disease-free survival in radically resected non-small cell lung cancer patients: A study of the perugia multidisciplinary team for thoracic oncology. J Thorac Oncol 3 (2008), 365-73.
34. J. Luo, L. Shen, D. Zheng, Diagnostic value of circulating free DNA for the detection of EGFR mutation status in NSCLC: A systematic review and meta-analysis. Sci Rep 4 (2014), 6269.
35. P.C. Mack, W.S. Holland, R.A. Burich, R. Sangha, L.I. Solis, Y. Li, L.A. Beckett, P.N. Lara Jr, A.M. Davies, D.R. Gandara, EGFR mutations detected in plasma are associated with patient outcomes in erlotinib plus docetaxel-treated non-small cell lung cancer. J Thorac Oncol 4 (2009), 1466-72.
36. A.M. Mazurek, A. Fiszer-Kierzkowska, T. Rutkowski, K. Składowski, M. Pierzyna, D. ͆cieglińska, G. Woźniak, G. Głowacki, R. Kawczyński, E. Małusecka, Optimization of circulating cell-free DNA recovery for KRAS mutation and HPV detection in plasma. Cancer Biomark 13 (2013), 385-94.
37. T. Mok, Y.L. Wu, J.S. Lee, C-J. Yu, V. Sriuranpong, W. Wen, J. Tsai, M. Truman, Klughammer B, W Lin, Detection of EGFR-activating mutations from plasma DNA as a potent predictor of survival outcomes in FASTACT 2: A randomized phase III study on intercalated combination of erlotinib (E) and chemotherapy (C). J Clin Oncol 31 (2013), suppl; abstr 8021.
38. A.D. Nygaard, K.L. Garm Spindler, N. Pallisgaard, R.F. Andersen, A. Jakobsen, The prognostic value of KRAS mutated plasma DNA in advanced non-small cell lung cancer. Lung Cancer. 3 (2013), 312-7.
39. M. Paci, S. Maramotti, E. Bellesia, D. Formisano, L. Albertazzi, T. Ricchetti, G. Ferrari, V. Annessi, D. Lasagni, C. Carbonelli, S. De Franco, M. Brini, G. Sgarbi, R. Lodi, Circulating plasma DNA as diagnostic biomarker in non-small cell lung cancer. Lung Cancer 64 (2009), 92-7.
40. S. Pan, W. Xia, Q. Ding, Y. Shu, T. Xu, Y. Geng, Y. Lu, D. Chen, J. Xu, F. Wang, C. Zhao, P. Huang, P. Huang, H. Shen, Z. Hu, S. Lu, Can plasma DNA monitoring be employed in personalized chemotherapy for patients with advanced lung cancer? Biomed Pharmacother 66 (2012), 131-7.
41. D.L. Peters, P.J. Pretorius, Origin, translocation and destination of extracellular occurring DNA - a new paradigm in genetic behaviour. Clin Chim Acta 11-12 (2011), 806-11.
42. R. Pirker, F.J. Herth, K.M. Kerr, M. Filipits, M. Taron, D. Gandara, F.R. Hirsch, D. Grunenwald, H. Popper, E. Smit, M. Dietel, A. Marchetti, C. Manegold C, P. Schirmacher, M. Thomas, R. Rosell, F. Cappuzzo, R. Stahel, European EGFR Workshop Group, Consensus for EGFR mutation testing in non-small cell lung cancer: results from a European workshop. J Thorac Oncol 5 (2010), 1706-13.
43. M. Pölcher, J. Ellinger, S. Willems, O. El-Maarri, T. Höller, C. Amann, M. Wolfgarten, C. Rudlowski, W. Kuhn, M. Braun, Impact of the menstrual cycle on circulating cell-free DNA. Anticancer Res 30 (2010), 2235-40.
44. P.J. Roberts, T.E. Stinchcombe, C.J. Der, M.A. Socinski, Personalized medicine in non-small-cell lung cancer: is KRAS a useful marker in selecting patients for epidermal growth factor receptor-targeted therapy? J Clin Oncol 28 (2010), 4769-77.
45. C. Roth, K. Pantel, V. Müller, B. Rack, S. Kasimir-Bauer, W. Janni, H. Schwarzenbach, Apoptosis-related deregulation of proteolytic activities and high serum levels of circulating nucleosomes and DNA in blood correlate with breast cancer progression. BMC Cancer 11 (2011).
46. H. Schwarzenbach, D.S. Hoon, K. Pantel, Cell-free nucleic acids as biomarkers in cancer patients. Nat Rev Cancer 6 (2011), 426-37.
47. B. Shapiro, M. Chakrabarty, E.M. Cohn, S.A. Leon, Determination of circulating DNA levels in patients with benign or malignant gastrointestinal disease. Cancer 51 (1983), 2116-20.
48. T. Shimada, N. Yamaguchi, N. Nishida, K. Yamasaki, K. Miura, S. Katamine, H. Masuzaki, Human papillomavirus DNA in plasma of patients with HPV16 DNA-positive uterine cervical cancer. Jpn J Clin Oncol 40 (2010), 420-4.
49. R. Sirera, R.M. Bremnes, A. Cabrera, E. Jantus-Lewintre, E. Sanmartín, A. Blasco, N. Del Pozo, R. Rosell, R. Guijarro, J. Galbis, J.J. Sánchez, C. Camps, Circulating DNA is a useful prognostic factor in patients with advanced non-small cell lung cancer. J Thorac Oncol 2 (2011), 286-90.
50. G. Sozzi, D. Conte, L. Mariani, S. Lo Vullo, L. Roz, C. Lombardo, M.A. Pierotti, L. Tavecchio, Analysis of circulating tumor DNA in plasma at diagnosis and during follow-up of lung cancer patients. Cancer Res. 12 (2001), 4675-8.
51. G. Sozzi, D. Conte, M. Leon, R. Ciricione, L. Roz, C. Ratcliffe, E. Roz, N. Cirenei, M. Bellomi, G. Pelosi, M.A. Pierotti, U. Pastorino, Quantification of free circulating DNA as a diagnostic marker in lung cancer. J Clin Oncol 21 (2003), 3902-8.
52. G. Sozzi, K. Musso, C. Ratcliffe, P. Goldstraw, M.A. Pierotti, U. Pastorino, Detection of microsatellite alterations in plasma DNA of non-small cell lung cancer patients: A prospect for early diagnosis. Clin Cancer Res 5 (1999), 2689-92.
53. G. Sozzi, L. Roz, D. Conte, I. Mariani, F. Andriani, P. Verderio, U. Pastorino, Effects of prolonged storage of whole plasma or isolated plasma DNA on the results of circulating DNA quantification assays. J Natl Cancer Inst 97 (2005), 1848-50.
54. G. Sozzi, L. Roz, D. Conte, L. Mariani, F. Andriani, S. Lo Vullo, C. Verri, U. Pastorino, Plasma DNA quantification in lung cancer computed tomography screening: five-year results of a prospective study. Am J Respir Crit Care Med 1 (2009), 69-74.
55. M.D. Teare, P.J. Woll, Genomic tests: unreliable for cancer? A focus on circulating DNA and lung cancer. Expert Rev Mol Diagn. 7 (2007), 699-702.
56. Y.K. Tong, Y.M. Lo, Diagnostic developments involving cell-free (circulating) nucleic acids. Clin Chim Acta 363 (2006), 187-96.
57. S. Trombino, M. Neri, R. Puntoni, C. Angelini, M. Loprevite, A. Cesario, P. Granone, A. Imperatori, L. Dominioni, A. Ardizzoni, R. Filiberti, P. Russo, Mutations in K-ras codon 12 detected in plasma DNA are not an indicator of disease in patients with non-small cell lung cancer. Clin Chem 7 (2005), 1313-4.
58. P. Ulivi, R. Silvestrini, Role of quantitative and qualitative characteristics of free circulating DNA in the management of patients with non-small cell lung cancer. Cell Oncol (Dordr) 6 (2013), 439-48.
59. N. Umetani, S. Hiramatsu, D.S. Hoon, Higher amount of free circulating DNA in serum than in plasma is not mainly caused by contaminated extraneous DNA during separation. Ann N Y Acad Sci 1075 (2006), 299-307.
60. R.A. van Boerdonk, H.A. Brokx, P. Lee, C. Kooi, P.E. Postmus, P.J. Snijders, K. Grünberg, E. Thunnissen, T.G. Sutedja, J.M. Daniels, D.A. Heideman, Can quantifying free-circulating DNA in plasma be used to identify subjects with high-grade pre-invasive endobronchial lesions? Oncol Lett 5 (2013), 1591-94.
61. M.A. van der Drift, B.E. Hol, C.H. Klaassen, C.F. Prinsen, Y.A. van Aarssen, R. Donders, J.W. van der Stappen, P.N. Dekhuijzen, H.F. van der Heijden, F.B. Thunnissen, Circulating DNA is a non-invasive prognostic factor for survival in non-small cell lung cancer Lung Cancer 2 (2010), 283-7.
62. M. van der Vaart, P.J. Pretorius, Is the role of circulating DNA as a biomarker of cancer being prematurely overrated? Clin Biochem 43 (2010), 26-36.
63. S. Wang, T. An, J. Wang, J. Zhao, Z. Wang, M. Zhuo, H. Bai, L. Yang, Y. Zhang, X. Wang, J. Duan, Y. Wang, Q. Guo, M. Wu, Potential clinical significance of a plasma-based KRAS mutation analysis in patients with advanced non-small cell lung cancer. Clin Cancer Res 16 (2010), 1324-30.
64. M. Wang, T.M. Block, L. Steel, D.E. Brenner, Y.H. Su. M. Wang, Preferential isolation of fragmented DNA enhances the detection of circulating mutated k-ras DNA. Clin Chem 50 (2004), 211-3.
65. X. Xue, Y.M. Zhu, P.J. Woll, Circulating DNA and lung cancer. Ann N Y Acad Sci 1075 (2006), 154-64.
66. I. Yam, D.C. Lam, K. Chan, J. Chung-Man Ho, M. Ip, W.K. Lam, T.K. Chan, V. Chan, EGFR array: uses in the detection of plasma EGFR mutations in non-small cell lung cancer patients. J Thorac Oncol 7 (2012), 1131-40.
67. R. Zhang, F. Shao, X. Wu, K. Ying, Value of quantitative analysis of circulating cell free DNA as a screening tool for lung cancer: A meta-analysis. Lung Cancer 69 (2010), 225-31.
68. A. Ziegler, U. Zangemeister-Wittke, R.A. Stahel, Circulating DNA: A new diagnostic gold mine? Cancer Treat Rev 28 (2002), 255-71.