alexa Concordant Results of Epidermal Growth Factor Receptor Mutation Detection by Real-Time Polymerase Chain Reaction and Ion Torrent Technology in Non-Small Cell Lung Cancer
ISSN: 2472-1247

Journal of Clinical Respiratory Diseases and Care
Open Access

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Research Article

Concordant Results of Epidermal Growth Factor Receptor Mutation Detection by Real-Time Polymerase Chain Reaction and Ion Torrent Technology in Non-Small Cell Lung Cancer

Satu Mäki-Nevala1, Aija Knuuttila2, Sakari Knuutila1 and Virinder Kaur Sarhadi1*

1University of Helsinki, Faculty of Medicine, Medicum, Department of Pathology, P.O. Box 21, FI-00014 University of Helsinki, Finland

2University of Helsinki and Helsinki University Hospital, Heart and Lung Center, Department of Pulmonary Medicine, PO Box 340, FI-00029 Helsinki, Finland

*Corresponding Author:
Virinder Kaur Sarhadi
MD, University of Helsinki, Faculty of Medicine
Medicum, Department of Pathology
P. O.Box 21 (Haartmaninkatu 3)
FI-00014 University of Helsinki, Finland
Tel: +358 50 4482809
Fax: +358 2941 26527
E-mail: [email protected]

Received date January 09, 2016; Accepted date February 11, 2016; Published date February 15, 2016

Citation: Mäki-Nevala S, Knuuttila A, Knuutila S, Sarhadi VK (2016) Concordant Results of Epidermal Growth Factor Receptor Mutation Detection by Real-Time Polymerase Chain Reaction and Ion Torrent Technology in Non-Small Cell Lung Cancer. J Clin Respir Dis Care 2:107. doi: 10.4172/2472-1247.1000107

Copyright: © 2016 Mäki-Nevala S, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.



Nowaday screening of non-small cell lung cancer (NSCLC) patients for epidermal growth factor receptor (EGFR) activating mutations is carried out in routine diagnostics to select patients who could benefit from EGFR inhibitor therapies. We aimed to compare EGFR mutation testing by Ion Torrent PGM technology, using AmpliSeq Colon and Lung Cancer panel, with real-time PCR in order to evaluate the accuracy of next generation sequencing (NGS) in detecting clinically relevant EGFR mutations in NSCLC. In total, 368 NSCLC patient samples were tested for EGFR by PCR and were also sequenced by Ion Torrent PGM by using AmpliSeq Colon and Lung panel. Samples were formalin-fixed, paraffin-embedded tumor specimens of Finnish NSCLC patients. The mutations studied for comparison were G719X, S768I, T790M, L858R, L861Q, deletions in exon 19 and insertions in exon 20. Comparison of EGFR mutations detectable by both PCR kit and NGS panel, showed a high degree of concordance between the two methods. Out of 368 samples, 31 out of 32 positive by PCR were also positive by NGS, and 336 out of 336 negative by PCR for these mutations were also negative by NGS giving a concordance of 99.7%. Two negative samples by PCR showed insertions in exon 20, which were not detectable by PCR. In one sample NGS failed to detect G719X mutation that had a very weak signal in PCR. Our study shows that the Ion Torrent PGM technology gives highly comparable results with the golden standard PCR. Thus, this NGS methodology is sensitive and reliable while testing clinically and diagnostically significant EGFR mutations in FFPE samples.


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