Abstract
The introduction of tyrosine-kinase inhibitors (TKI) targeting specific EGFR mutations for the treatment non-small cell lung cancer patients (NSCLC) dramatically increased the clinical outcome in a subset of patients harboring specific activating EGFR mutations. Three different generations of TKI have been developed until now, demonstrating increasing progression-free survival as well as overall survival. However, to benefit of the treatment, the analysis of the genomic content of each patient is mandatory. Additionally, resistance mutations are prevalent and occur frequently and rapidly during treatment. Therefore, tests to detect EGFR mutations at initial diagnosis as well as during treatment, e.g., from liquid biopsies, have been developed and implemented in clinical daily practice for theranostic purpose.
As EGFR mutation testing has to be highly reliable, fast, and easy to perform, the automatic qPCR system Idylla™ has been developed and implemented for clinical mutation testing from tissue samples and soon from circulating free DNA. Therefore, we here describe how the Idylla™ system can be used for the analysis of EGFR mutations in NSCLC patients. Importantly, as the results are massively influenced by the preanalytical steps, we also provide information on the correct sample selection to avoid nonconclusive results.
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References
Didkowska J, Wojciechowska U, Mańczuk M et al (2016) Lung cancer epidemiology: contemporary and future challenges worldwide. Ann Transl Med 4:150
Siegel RL, Miller KD, Jemal A (2017) Cancer statistics, 2017. CA Cancer J Clin 67:7–30
Ferlay J, Soerjomataram I, Dikshit R et al (2015) Cancer incidence and mortality worldwide: sources, methods and major patterns in GLOBOCAN 2012. Int J Cancer 136:E359–E386
Dela Cruz CS, Tanoue LT, Matthay RA (2011) Lung cancer: epidemiology, etiology and prevention. Clin Chest Med 32:1–61
Torre LA, Islami F, Siegel RL et al (2017) Global cancer in women: burden and trends. Cancer Epidemiol Biomark Prev 26:444–457
Jemal A, Miller KD, Ma J et al (2018) Higher lung cancer incidence in young women than young men in the United States. N Engl J Med 378:1999–2009
Rahal Z, El Nemr S, Sinjab A et al (2017) Smoking and lung cancer: a geo-regional perspective. Front Oncol 7:1–7
De Matteis S, Heederik D, Burdorf A et al (2017) Current and new challenges in occupational lung diseases. Eur Respir Rev 26. https://doi.org/10.1183/16000617.0080-2017
Wong MCS, Lao XQ, Ho K-F et al (2017) Incidence and mortality of lung cancer: global trends and association with socioeconomic status. Sci Rep 7:14300
Travis WD, Brambilla E, Nicholson AG et al (2015) The 2015 World Health Organization classification of lung tumors: impact of genetic, clinical and radiologic advances since the 2004 classification. J Thorac Oncol 10:1243–1260
Zappa C, Mousa SA (2016) Non-small cell lung cancer: current treatment and future advances. Transl Lung Cancer Res 5:288–300
Hellmann MD, Ciuleanu T-E, Pluzanski A et al (2018) Nivolumab plus ipilimumab in lung cancer with a high tumor mutational burden. N Engl J Med 378:2093–2104
Gandhi L, Rodríguez-Abreu D, Gadgeel S et al (2018) Pembrolizumab plus chemotherapy in metastatic non-small-cell lung cancer. N Engl J Med 378:2078–2092
Zhang Y-L, Yuan J-Q, Wang K-F et al (2016) The prevalence of EGFR mutation in patients with non-small cell lung cancer: a systematic review and meta-analysis. Oncotarget 7:9–13
Drug Approval Package: Iressa (gefitinib) NDA #021399. https://www.accessdata.fda.gov/drugsatfda_docs/nda/2003/021399_iressa.cfm
Drug Approval Package: Tarceva (Erlotinib) NDA #021743. https://www.accessdata.fda.gov/drugsatfda_docs/nda/2004/21-743_Tarceva.cfm
Drug Approval Package: Gilotrif (afatinib). https://www.accessdata.fda.gov/drugsatfda_docs/nda/2013/201292Orig1s000TOC.cfm
TAGRISSO (osimertinib) tablets. https://www.accessdata.fda.gov/drugsatfda_docs/nda/2015/208065Orig1s000TOC.cfm
Morgillo F, Della Corte CM, Fasano M et al (2016) Mechanisms of resistance to EGFR-targeted drugs: lung cancer. ESMO Open 1:e000060
Stewart EL, Tan SZ, Liu G et al (2015) Known and putative mechanisms of resistance to EGFR targeted therapies in NSCLC patients with EGFR mutations — a review. Transl Lung Cancer Res 4:67–81
Ettinger DS, Wood DE, Aisner DL et al (2017) Non-small cell lung cancer, version 5.2017, NCCN clinical practice guidelines in oncology. J Natl Compr Cancer Netw 15:504–535
Normanno N, Denis MG, Thress KS et al (2017) Guide to detecting epidermal growth factor receptor (EGFR) mutations in ctDNA of patients with advanced non-small-cell lung cancer. Oncotarget 8:12501–12516
Ellison G, Zhu G, Moulis A et al (2013) EGFR mutation testing in lung cancer: a review of available methods and their use for analysis of tumour tissue and cytology samples. J Clin Pathol 66:79–89
Lin C-C, Huang W-L, Wei F et al (2015) Emerging platforms using liquid biopsy to detect EGFR mutations in lung cancer. Expert Rev Mol Diagn 15:1427–1440
Xu T, Kang X, You X et al (2017) Cross-platform comparison of four leading technologies for detecting EGFR mutations in circulating tumor DNA from non-small cell lung carcinoma patient plasma. Theranostics 7:1437–1446
Uguen A, Troncone G (2018) A review on the Idylla platform: towards the assessment of actionable genomic alterations in one day. J Clin Pathol 71(9):757–762
Ilie M, Butori C, Lassalle S et al (2017) Optimization ofEGFRmutation detection by the fully-automated qPCR-based Idylla system on tumor tissue from patients with non-small cell lung cancer. Oncotarget 8:103055–103062
Technical sheet Idylla™ EGFR Mutation Test. https://media.biocartis.com/biocartis/documents/A0060-6_EGFR_CE_IVD-ENG_R1.012018.pdf
Minca EC, Lanigan CP, Reynolds JP et al (2014) ALK status testing in non-small-cell lung carcinoma by FISH on ThinPrep slides with cytology material. J Thorac Oncol 9:464–468
De Luca C, Gragnano G, Pisapia P et al (2017) EGFR mutation detection on lung cancer cytological specimens by the novel fully automated PCR-based Idylla EGFR Mutation Assay. J Clin Pathol 70:295–300
Acknowledgments
This work was supported by the French Government (National Research Agency, ANR) through the “Investments for the Future” LABEX SIGNALIFE: program reference # ANR-11-LABX-0028-01.
Disclosure: Paul Hofman is an expert member of the Key Expert Forum for Biocartis NV, Mechelen, Belgium. Simon Heeke has declared no conflicts of interest.
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Heeke, S., Hofman, P. (2019). EGFR Mutation Analysis in Non-small Cell Lung Carcinoma from Tissue Samples Using the Fully Automated Idylla™ qPCR System. In: Batra, J., Srinivasan, S. (eds) Theranostics. Methods in Molecular Biology, vol 2054. Humana, New York, NY. https://doi.org/10.1007/978-1-4939-9769-5_10
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DOI: https://doi.org/10.1007/978-1-4939-9769-5_10
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