Comparison of direct sequencing, PNA clamping-real time polymerase chain reaction, and pyrosequencing methods for the detection of EGFR mutations in non-small cell lung carcinoma and the correlation with clinical responses to EGFR tyrosine kinase inhibitor treatment

Korean Journal of Pathology

Volumn 47, Issue 1, 2013, Pages 52-60

  Lee, Hyun Ju ^a,b   Xu, Xianhua ^a   Kim, Hyojin ^a   Jin, Yan ^a   Sun, Pingli ^a   Kim, Ji Eun ^c   Chung, Jin Haeng ^a  

^a Seoul National University Bundang Hospital   (South Korea)

^b Soonchunhyang University College of Medicine   (South Korea)

^c Seoul National University College of Medicine   (South Korea)

Author keywords

Lung neoplasms; Mutation; Peptide nucleic acids; Pyrosequencing; Receptor, epidermal growth factor; Sequencing analysis, DNA

Indexed keywords

EID: 84874972652     PISSN: 17381843     EISSN: None     Source Type: Journal    
DOI: 10.4132/KoreanJPathol.2013.47.1.52     Document Type: Article

References (27)

1. Paez JG, Jänne PA, Lee JC, et al. EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science 2004; 304: 1497-500.
2. Lynch TJ, Bell DW, Sordella R, et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N Engl J Med 2004; 350: 2129-39.
3. Penzel R, Sers C, Chen Y, et al. EGFR mutation detection in NSCLC: assessment of diagnostic application and recommendations of the German Panel for Mutation Testing in NSCLC. Virchows Arch 2011; 458: 95-8.
4. Helland Å, Skaug HM, Kleinberg L, et al. EGFR gene alterations in a Norwegian cohort of lung cancer patients selected for surgery. J Thorac Oncol 2011; 6: 947-50.
5. Pirker R, Herth FJ, Kerr KM, et al. Consensus for EGFR mutation testing in non-small cell lung cancer: results from a European workshop. J Thorac Oncol 2010; 5: 1706-13.
6. Eberhard DA, Giaccone G, Johnson BE; Non-Small-Cell Lung Cancer Working Group. Biomarkers of response to epidermal growth factor receptor inhibitors in Non-Small-Cell Lung Cancer Working Group: standardization for use in the clinical trial setting. J Clin Oncol 2008; 26: 983-94.
7. Kim HJ, Lee KY, Kim YC, et al. Detection and comparison of peptide nucleic acid-mediated real-time polymerase chain reaction clamping and direct gene sequencing for epidermal growth factor receptor mutations in patients with non-small cell lung cancer. Lung Cancer 2012; 75: 321-5.
8. Kim HJ, Kim WS, Shin KC, et al. Comparative analysis of peptide nucleic acid (PNA)-mediated real-time PCR clamping and DNA direct sequencing for EGFR mutation detection. Tuberc Respir Dis 2011; 70: 21-7.
9. Lee KY, Kim HJ, Kim SJ, et al. PNA-mediated PCR clamping for the detection of EGFR mutations in non-small cell lung cancer. Tuberc Respir Dis 2010; 69: 271-8.
10. Ronaghi M, Uhlén M, Nyrén P. A sequencing method based on real- time pyrophosphate. Science 1998; 281: 363, 5.
11. Takano T, Ohe Y, Sakamoto H, et al. Epidermal growth factor receptor gene mutations and increased copy numbers predict gefitinib sensitivity in patients with recurrent non-small-cell lung cancer. J Clin Oncol 2005; 23: 6829-37.
12. Dufort S, Richard MJ, Lantuejoul S, de Fraipont F. Pyrosequencing, a method approved to detect the two major EGFR mutations for anti EGFR therapy in NSCLC. J Exp Clin Cancer Res 2011; 30: 57.
13. Pao W, Ladanyi M. Epidermal growth factor receptor mutation testing in lung cancer: searching for the ideal method. Clin Cancer Res 2007; 13: 4954-5.
14. Travis WD, Brambilla E, Müller-Hermelink HK, Harris CC. World Health Organization classification of tumours: pathology and genetics of tumours of the lung, pleura, thymus and heart. Lyon: IARC Press, 2004.
15. Goldstraw P, Crowley J, Chansky K, et al. The IASLC Lung Cancer Staging Project: proposals for the revision of the TNM stage groupings in the forthcoming (seventh) edition of the TNM Classification of malignant tumours. J Thorac Oncol 2007; 2: 706-14.
16. Yoo SB, Chung JH, Lee HJ, Lee CT, Jheon S, Sung SW. Epidermal growth factor receptor mutation and p53 overexpression during the multistage progression of small adenocarcinoma of the lung. J Thorac Oncol 2010; 5: 964-9.
17. Sun PL, Seol H, Lee HJ, et al. High incidence of EGFR mutations in Korean men smokers with no intratumoral heterogeneity of lung adenocarcinomas: correlation with histologic subtypes, EGFR/TTF-1 expressions, and clinical features. J Thorac Oncol 2012; 7: 323-30.
18. Therasse P, Arbuck SG, Eisenhauer EA, et al. New guidelines to evaluate the response to treatment in solid tumors. European Organization for Research and Treatment of Cancer, National Cancer Institute of the United States, National Cancer Institute of Canada. J Natl Cancer Inst 2000; 92: 205-16.
19. Han HS, Lim SN, An JY, et al. Detection of EGFR mutation status in lung adenocarcinoma specimens with different proportions of tumor cells using two methods of differential sensitivity. J Thorac Oncol 2012; 7: 355-64.
20. Choi JJ, Kim C, Park H. Peptide nucleic acid-based array for detecting and genotyping human papillomaviruses. J Clin Microbiol 2009; 47: 1785-90.
21. Seo AN, Kim JH, Lee D, Jeong JY, Park JY. Comparison of the DNA preservation in neutral-buffered formalin fixed paraffin-embedded tissue and in non-buffered formalin fixed paraffin-embedded tissue. Korean J Pathol 2011; 45: 549-56.
22. Greer CE, Wheeler CM, Manos MM. Sample preparation and PCR amplification from paraffin-embedded tissues. PCR Methods Appl 1994; 3: S113-22.
23. Liu D, Nakano J, Ueno M, et al. A useful protocol for analyses of mutations of the epidermal growth factor receptor gene. Oncol Rep 2006; 15: 1503-5.
24. Goto K, Satouchi M, Ishii G, et al. An evaluation study of EGFR mutation tests utilized for non-small-cell lung cancer in the diagnostic setting. Ann Oncol 2012; 23: 2914-9.
25. Ahmadian A, Ehn M, Hober S. Pyrosequencing: history, biochemistry and future. Clin Chim Acta 2006; 363: 83-94.
26. Mok TS, Wu YL, Thongprasert S, et al. Gefitinib or carboplatin-paclitaxel in pulmonary adenocarcinoma. N Engl J Med 2009; 361: 947-57.
27. Mitsudomi T, Kosaka T, Endoh H, et al. Mutations of the epidermal growth factor receptor gene predict prolonged survival after gefitinib treatment in patients with non-small-cell lung cancer with postoperative recurrence. J Clin Oncol 2005; 23: 2513-20.