Frontiers in Oncology (Apr 2020)
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 Hattinger,
- Toni Ibrahim,
- Laura Mercatali,
- Alessandro De Vita,
- Maria Vincenza Carriero,
- Matteo Pallocca,
- Rossella Loria,
- Renato Covello,
- Marta Sbaraglia,
- Angelo Paolo Dei Tos,
- Angelo Paolo Dei Tos,
- Rita Falcioni,
- Roberta Maestro
Affiliations
- Dominga Racanelli
- Unit of Oncogenetics and Functional Oncogenomics, Centro di Riferimento Oncologico di Aviano (CRO Aviano) IRCCS, National Cancer Institute, Aviano, Italy
- Monica Brenca
- Unit of Oncogenetics and Functional Oncogenomics, Centro di Riferimento Oncologico di Aviano (CRO Aviano) IRCCS, National Cancer Institute, Aviano, Italy
- Davide Baldazzi
- Unit of Oncogenetics and Functional Oncogenomics, Centro di Riferimento Oncologico di Aviano (CRO Aviano) IRCCS, National Cancer Institute, Aviano, Italy
- Frauke Goeman
- Department of Research, Diagnosis and Innovative Technology, IRCCS Regina Elena National Cancer Institute, Rome, Italy
- Beatrice Casini
- Department of Research, Diagnosis and Innovative Technology, IRCCS Regina Elena National Cancer Institute, Rome, Italy
- Biagio De Angelis
- Department of Onco-Haematology and Cell and Gene Therapy Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
- Marika Guercio
- Department of Onco-Haematology and Cell and Gene Therapy Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
- Giuseppe Maria Milano
- Department of Onco-Haematology and Cell and Gene Therapy Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
- Elena Tamborini
- Department of Pathology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
- Adele Busico
- Department of Pathology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
- Gianpaolo Dagrada
- Department of Pathology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
- Cecilia Garofalo
- Advanced Translational Research Laboratory, Veneto Institute of Oncology IOV – IRCCS, Padua, Italy
- Chiara Caruso
- Advanced Translational Research Laboratory, Veneto Institute of Oncology IOV – IRCCS, Padua, Italy
- Antonella Brunello
- Medical Oncology 1, Department of Oncology, Veneto Institute of Oncology IOV – IRCCS, Padua, Italy
- Ymera Pignochino
- Division of Medical Oncology, Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Italy
- Enrico Berrino
- Unit of Pathology, Candiolo Cancer Institute FPO-IRCCS, Candiolo, Italy
- Giovanni Grignani
- Division of Medical Oncology, Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Italy
- Katia Scotlandi
- Laboratory of Experimental Oncology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy
- Alessandro Parra
- Laboratory of Experimental Oncology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy
- Claudia Maria Hattinger
- Laboratory of Experimental Oncology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy
- Toni Ibrahim
- 0Osteoncology and Rare Tumors Center, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Meldola, Italy
- Laura Mercatali
- 0Osteoncology and Rare Tumors Center, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Meldola, Italy
- Alessandro De Vita
- 0Osteoncology and Rare Tumors Center, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Meldola, Italy
- Maria Vincenza Carriero
- 1Tumor Progression Unit, Department of Experimental Oncology, Istituto Nazionale Tumori Fondazione “G. Pascale” IRCCS, Naples, Italy
- Matteo Pallocca
- Department of Research, Diagnosis and Innovative Technology, IRCCS Regina Elena National Cancer Institute, Rome, Italy
- Rossella Loria
- Department of Research, Diagnosis and Innovative Technology, IRCCS Regina Elena National Cancer Institute, Rome, Italy
- Renato Covello
- Department of Research, Diagnosis and Innovative Technology, IRCCS Regina Elena National Cancer Institute, Rome, Italy
- Marta Sbaraglia
- 2Department of Pathology, Azienda Ospedaliera Universitaria di Padova, Padua, Italy
- Angelo Paolo Dei Tos
- 2Department of Pathology, Azienda Ospedaliera Universitaria di Padova, Padua, Italy
- Angelo Paolo Dei Tos
- 3Department of Medicine, University of Padua School of Medicine, Padua, Italy
- Rita Falcioni
- Department of Research, Diagnosis and Innovative Technology, IRCCS Regina Elena National Cancer Institute, Rome, Italy
- Roberta Maestro
- Unit of Oncogenetics and Functional Oncogenomics, Centro di Riferimento Oncologico di Aviano (CRO Aviano) IRCCS, National Cancer Institute, Aviano, Italy
- DOI
- https://doi.org/10.3389/fonc.2020.00489
- Journal volume & issue
-
Vol. 10
Abstract
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
- sarcoma
- molecular diagnosis
- fusion transcripts
- NGS
- anchored multiplex PCR
- hybrid capture-based panel
