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Tumor molecular profiling of NSCLC patients using next generation sequencing

  • Authors:
    • Nikolaos Tsoulos
    • Eirini Papadopoulou
    • Vasiliki Metaxa-Mariatou
    • Georgios Tsaousis
    • Chrisoula Efstathiadou
    • Georgia Tounta
    • Aikaterini Scapeti
    • Eugenia Bourkoula
    • Pavlos Zarogoulidis
    • George Pentheroudakis
    • Stylianos Kakolyris
    • Ioannis Boukovinas
    • Pavlos Papakotoulas
    • Elias Athanasiadis
    • Theofanis Floros
    • Anna Koumarianou
    • Vasileios Barbounis
    • Anca Dinischiotu
    • George Nasioulas
  • View Affiliations / Copyright

    Affiliations: GeneKor Medical S.A., Athens 15344, Greece, Pulmonary Department, Oncology Unit, ‘G. Papanikolaou’ General Hospital, Aristotle University of Thessaloniki, Thessaloniki 54124, Greece, Department of Medical Oncology, University Hospital of Ioannina, Ioannina 45500, Greeece, Department of Medical Oncology, University General Hospital of Alexandroupoli, Alexandroupoli 68100, Greece, Medical Oncology, ‘Bioclinic’ of Thessaloniki, Thessaloniki 54622, Greece, Second Department of Medical Oncology, Theagenion Anticancer Hospital of Thessaloniki, Thessaloniki 54639, Greece, Department of Medical Oncology, Mitera Hospital, Athens 15123, Greece, Athens Naval and Veterans Hospital, Athens 11521, Greece, Hematology-Oncology Unit, Fourth Department of Internal Medicine, Attikon Hospital, National and Kapodistrian University of Athens, Athens 12462, Greece, Third Medical Oncology Department, ‘Metropolitan’ Hospital, Pireas 18547, Greece, Department of Biochemistry and Molecular Biology, Faculty of Biology, University of Bucharest, Bucharest 0050095, Romania
    Copyright: © Tsoulos et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 3419-3429
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    Published online on: October 23, 2017
       https://doi.org/10.3892/or.2017.6051
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Abstract

Non‑small cell lung cancer (NSCLC) is the most common type of lung cancer and a tumor with a broad spectrum of targeted therapies already available or in clinical trials. Thus, molecular characterization of the tumor using next generation sequencing (NGS) technology, has become a key tool for facilitating treatment decisions and the clinical management of NSCLC patients. The performance of a custom 23 gene multiplex amplification hot spot panel, based on Ion AmpliSeq™ technology, was evaluated for the analysis of tumor DNA extracted from formalin-fixed and paraffin-embedded (FFPE) tissues. Furthermore, the Ion AmpliSeq™ RNA Fusion Lung Cancer Research Panel was used for fusion RNA transcript analysis. The mutation spectrum of the tumors was determined in a cohort of 502 patients with NSCLC using the aforementioned targeted gene panels. The panel used for tumor DNA analysis in this study exhibited high rates (100%) of sensitivity, specificity and reproducibility at a mutation allelic frequency of 3%. At least one DNA mutation was detected in 374 patients (74.5%) and an RNA fusion was identified in 16 patients, (3.2%). In total, alterations in a cancer-driver gene were identified (including point mutations, gene rearrangements and MET amplifications) in 77.6% of the tumors tested. Among the NSCLC patients, 23% presented a mutation in a gene associated with approved or emerging targeted therapy. More specifically, 13.5% (68/502) presented a mutation in a gene with approved targeted therapy (EGFR, ALK, ROS1) and 9.4% (47/502) had an alteration in a gene related to emerging targeted therapies (ERBB2, BRAF, MET and RET). Furthermore, 51.6% of the patients had a mutation in a gene that could be related to an off label therapy or indicative for access to a clinical trial. Thus, the targeted NGS panel used in this study is a reliable approach for tumor molecular profiling and can be applied in personalized treatment decision making for NSCLC patients.
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Copy and paste a formatted citation
Spandidos Publications style
Tsoulos N, Papadopoulou E, Metaxa-Mariatou V, Tsaousis G, Efstathiadou C, Tounta G, Scapeti A, Bourkoula E, Zarogoulidis P, Pentheroudakis G, Pentheroudakis G, et al: Tumor molecular profiling of NSCLC patients using next generation sequencing. Oncol Rep 38: 3419-3429, 2017.
APA
Tsoulos, N., Papadopoulou, E., Metaxa-Mariatou, V., Tsaousis, G., Efstathiadou, C., Tounta, G. ... Nasioulas, G. (2017). Tumor molecular profiling of NSCLC patients using next generation sequencing. Oncology Reports, 38, 3419-3429. https://doi.org/10.3892/or.2017.6051
MLA
Tsoulos, N., Papadopoulou, E., Metaxa-Mariatou, V., Tsaousis, G., Efstathiadou, C., Tounta, G., Scapeti, A., Bourkoula, E., Zarogoulidis, P., Pentheroudakis, G., Kakolyris, S., Boukovinas, I., Papakotoulas, P., Athanasiadis, E., Floros, T., Koumarianou, A., Barbounis, V., Dinischiotu, A., Nasioulas, G."Tumor molecular profiling of NSCLC patients using next generation sequencing". Oncology Reports 38.6 (2017): 3419-3429.
Chicago
Tsoulos, N., Papadopoulou, E., Metaxa-Mariatou, V., Tsaousis, G., Efstathiadou, C., Tounta, G., Scapeti, A., Bourkoula, E., Zarogoulidis, P., Pentheroudakis, G., Kakolyris, S., Boukovinas, I., Papakotoulas, P., Athanasiadis, E., Floros, T., Koumarianou, A., Barbounis, V., Dinischiotu, A., Nasioulas, G."Tumor molecular profiling of NSCLC patients using next generation sequencing". Oncology Reports 38, no. 6 (2017): 3419-3429. https://doi.org/10.3892/or.2017.6051
Copy and paste a formatted citation
x
Spandidos Publications style
Tsoulos N, Papadopoulou E, Metaxa-Mariatou V, Tsaousis G, Efstathiadou C, Tounta G, Scapeti A, Bourkoula E, Zarogoulidis P, Pentheroudakis G, Pentheroudakis G, et al: Tumor molecular profiling of NSCLC patients using next generation sequencing. Oncol Rep 38: 3419-3429, 2017.
APA
Tsoulos, N., Papadopoulou, E., Metaxa-Mariatou, V., Tsaousis, G., Efstathiadou, C., Tounta, G. ... Nasioulas, G. (2017). Tumor molecular profiling of NSCLC patients using next generation sequencing. Oncology Reports, 38, 3419-3429. https://doi.org/10.3892/or.2017.6051
MLA
Tsoulos, N., Papadopoulou, E., Metaxa-Mariatou, V., Tsaousis, G., Efstathiadou, C., Tounta, G., Scapeti, A., Bourkoula, E., Zarogoulidis, P., Pentheroudakis, G., Kakolyris, S., Boukovinas, I., Papakotoulas, P., Athanasiadis, E., Floros, T., Koumarianou, A., Barbounis, V., Dinischiotu, A., Nasioulas, G."Tumor molecular profiling of NSCLC patients using next generation sequencing". Oncology Reports 38.6 (2017): 3419-3429.
Chicago
Tsoulos, N., Papadopoulou, E., Metaxa-Mariatou, V., Tsaousis, G., Efstathiadou, C., Tounta, G., Scapeti, A., Bourkoula, E., Zarogoulidis, P., Pentheroudakis, G., Kakolyris, S., Boukovinas, I., Papakotoulas, P., Athanasiadis, E., Floros, T., Koumarianou, A., Barbounis, V., Dinischiotu, A., Nasioulas, G."Tumor molecular profiling of NSCLC patients using next generation sequencing". Oncology Reports 38, no. 6 (2017): 3419-3429. https://doi.org/10.3892/or.2017.6051
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