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Caractérisation moléculaire de l'EGFR dans les cancers bronchiques non à petites cellules : étude prospective comparative des technologies NGS et automate Idylla

Abstract : Introduction: Detection of genetic alterations in the EGFR tyrosine kinase domain is a major concern in the management of non-small cell lung cancer because it conditions access to tyrosine kinase inhibitors. In practice, it is possible to characterize only well-documented mutations or to sequence all relevant EGFR exons and also other targets of theranostic interest. This prospective study compares the targeted EGFR characterization on Idylla platform (Biocartis) and a more extensive one by next generation sequencing using Ion Torrent technology. Material and methods: A total of 100 formalin-fixed paraffin-embedded tumour samples were tested simultaneously by both techniques under the conditions recommended by the suppliers. The comparison covered all technical and practical aspects of the laboratory. Results: At least one EGFR mutation of interest for tyrosine kinase inhibitors for 9 and 7 samples was detected respectively by sequencing and by the Idylla system. For three samples, EGFR sensitive mutations to tyrosine kinase inhibitors were detected only by next-generation sequencing. In addition, for 37 samples, mutations of clinical interest outside EGFR were characterized by sequencing and communicated to the prescriber. Conclusion: Idylla technology allows the rapid characterization of a majority of EGFR variants. The result can be optimized by careful analysis of the amplification curves with the Idylla Explore tool or by increasing the amount of initial material. A complementary new generation sequencing analysis for non-contributory results by Idylla should also be recommended.
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https://www.hal.inserm.fr/inserm-02912690
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Submitted on : Thursday, August 6, 2020 - 2:29:39 PM
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Louise-Marie Chevalier, Amandine Billaud, Christophe Passot, Adélaïde Renoult, Frédéric Bigot, et al.. Caractérisation moléculaire de l'EGFR dans les cancers bronchiques non à petites cellules : étude prospective comparative des technologies NGS et automate Idylla. Annales de Pathologie, Elsevier Masson, 2020, pp.S0242-6498(20)30031-6. ⟨10.1016/j.annpat.2020.01.006⟩. ⟨inserm-02912690⟩

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