RT Journal Article
SR Electronic
T1 Comparison between two different next generation sequencing platforms for clinical relevant gene mutation test in solid tumours
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 602
OP 604
DO 10.1136/jclinpath-2019-206422
VO 73
IS 9
A1 Silvia Bessi
A1 Francesco Pepe
A1 Marco Ottaviantonio
A1 Pasquale Pisapia
A1 Umberto Malapelle
A1 Giancarlo Troncone
A1 Mauro Biancalani
YR 2020
UL http://jcp.bmj.com/content/73/9/602.abstract
AB 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.