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BMJ Publishing Group, Journal of Clinical Pathology, 9(73), p. 602-604, 2020

DOI: 10.1136/jclinpath-2019-206422

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Comparison between two different next generation sequencing platforms for clinical relevant gene mutation test in solid tumours

Journal article published in 2020 by Silvia Bessi ORCID, Francesco Pepe ORCID, Marco Ottaviantonio, Pasquale Pisapia ORCID, Umberto Malapelle ORCID, Giancarlo Troncone ORCID, Mauro Biancalani
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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Abstract

In the present study, we analysed 44 formalin fixed paraffin embedded (FFPE) from different solid tumours by adopting two different next generation sequencing platforms: GeneReader (QIAGEN, Hilden, Germany) and Ion Torrent (Thermo Fisher Scientific, Waltham, Massachusetts, USA). We highlighted a 100% concordance between the platforms. In addition, focusing on variant detection, we evaluated a very good agreement between the two tests (Cohen’s kappa=0.84) and, when taking into account variant allele fraction value for each variant, a very high concordance was obtained (Pearson’s r=0.94). Our results underlined the high performance rate of GeneReader on FFPE samples and its suitability in routine molecular predictive practice.