Nicola Normanno, José Carlos Machado, Edoardo Pescarmona, Simonetta Buglioni, Lara Navarro, Riziero Esposito Abate, Anabela Ferro, Rob Mensink, Matilde Lambiase, Virginie Lespinet-Fabre, Byron Calgua, Philip M Jermann, Marius Ilié, Paul Hofman
Molecular profiling of solid tumors facilitates personalized, targeted therapeutic interventions. The ability to perform next-generation sequencing (NGS), especially from small tissue samples, in a short turnaround time (TAT) is essential to providing results that enable rapid clinical decisions. This multicenter study evaluated the performance of a CE in vitro diagnostic (IVD) assay, the Oncomine Dx Express Test, on the Ion Torrent Genexus System for detecting DNA and RNA variants in solid tumors. Eighty-two archived formalin-fixed paraffin embedded (FFPE) tissue samples from lung, colorectal, central nervous system, melanoma, breast, gastric, thyroid, and soft tissue cancers were used to assess the presence of single nucleotide variants (SNVs), insertions and deletions (indels), copy number variations (CNVs), gene fusions, and splice variants...
September 7, 2023: International Journal of Molecular Sciences