Comparison between two different next generation sequencing platforms for clinical relevant gene mutation test in solid tumours. Issue 9 (14th February 2020)

• Record Type: Journal Article
• Authors: Bessi, Silvia; Pepe, Francesco; Ottaviantonio, Marco; Pisapia, Pasquale; Malapelle, Umberto; Troncone, Giancarlo; Biancalani, Mauro
• Is Part Of: Journal of clinical pathology. Volume 73:Issue 9(2020)
• Page Start: 602
• Page End: 604
• Publication Date: 2020-02-14
• Subjects: tumour markers -- oncology -- molecular biology; Pathology -- Periodicals; Pathology, Molecular -- Periodicals; 616.0705
• DOI: 10.1136/jclinpath-2019-206422
• Languages: English
• ISSNs: 0021-9746

Abstract

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.