This work describes the set-up of a shared platform among the laboratories of the Alleanza Contro il Cancro (ACC) Italian Research Network for the identification of fusion transcripts in sarcomas by using Next Generation Sequencing (NGS). Different NGS approaches, including anchored multiplex PCR and hybrid capture-based panels, were employed to profile a large set of sarcomas of different histotypes. The analysis confirmed the reliability of NGS RNA-based approaches in detecting sarcoma-specific rearrangements. Overall, the anchored multiplex PCR assay proved to be a fast and easy-to-analyze approach for routine diagnostics laboratories.
Keywords: NGS; anchored multiplex PCR; fusion transcripts; hybrid capture-based panel; molecular diagnosis; sarcoma.
Copyright © 2020 Racanelli, Brenca, Baldazzi, Goeman, Casini, De Angelis, Guercio, Milano, Tamborini, Busico, Dagrada, Garofalo, Caruso, Brunello, Pignochino, Berrino, Grignani, Scotlandi, Parra, Hattinger, Ibrahim, Mercatali, De Vita, Carriero, Pallocca, Loria, Covello, Sbaraglia, Dei Tos, Falcioni and Maestro.