Open Access

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

  • Published online on: October 23, 2017     https://doi.org/10.3892/or.2017.6051
  • Pages:3419-3429
  • Copyright: © Tsoulos et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

0

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.

Related Articles

Journal Cover

December 2017
Volume 38 Issue 6

Print ISSN: 1021-335X
Online ISSN:1791-2431

2016 Impact Factor: 2.662
Ranked #31/217 Oncology
(total number of cites)

Sign up for eToc alerts

Recommend to Library

Copy and paste a formatted citation
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