Next-Generation Sequencing Approaches for the Identification of Pathognomonic Fusion Transcripts in Sarcomas: The Experience of the Italian ACC Sarcoma Working Group.

Dominga Racanelli, Monica Brenca, Davide Baldazzi, Frauke Goeman, Beatrice Casini, Biagio De Angelis, Marika Guercio, Giuseppe Maria Milano, Elena Tamborini, Adele Busico, Gianpaolo Dagrada, Cecilia Garofalo, Chiara Caruso, Antonella Brunello, Ymera Pignochino, Enrico Berrino, Giovanni Grignani, Katia Scotlandi, Alessandro Parra, Claudia Maria HattingerToni Ibrahim, Laura Mercatali, Alessandro De Vita, Maria Vincenza Carriero, Matteo Pallocca, Rossella Loria, Renato Covello, Marta Sbaraglia, Angelo Paolo Dei Tos, Rita Falcioni, Roberta Maestro

Research output: Contribution to journalArticlepeer-review


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.
Original languageUndefined/Unknown
Pages (from-to)489
Number of pages1
JournalFrontiers in Oncology
Publication statusPublished - Apr 15 2020


  • NGS
  • anchored multiplex PCR
  • fusion transcripts
  • hybrid capture-based panel
  • molecular diagnosis
  • sarcoma

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