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.
Comparison between two different next generation sequencing platforms for clinical relevant gene mutation test in solid tumours / Bessi, Silvia; Pepe, Francesco; Ottaviantonio, Marco; Pisapia, Pasquale; Malapelle, Umberto; Troncone, Giancarlo; Biancalani, Mauro. - In: JOURNAL OF CLINICAL PATHOLOGY. - ISSN 0021-9746. - (2020), p. jclinpath-2019-206422. [10.1136/jclinpath-2019-206422]
Comparison between two different next generation sequencing platforms for clinical relevant gene mutation test in solid tumours
Pepe, Francesco;Pisapia, Pasquale;Malapelle, Umberto;Troncone, Giancarlo;
2020
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.