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; Rita Falcioni; Roberta Maestro

doi:10.3389/fonc.2020.00489

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

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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.

Original language	English
Article number	489
Pages (from-to)	1-11
Number of pages	11
Journal	Frontiers in Oncology
Volume	10
DOIs	https://doi.org/10.3389/fonc.2020.00489
Publication status	Published - Apr 15 2020

Keywords

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

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Racanelli, D., Brenca, M., Baldazzi, D., Goeman, F., Casini, B., De Angelis, B., Guercio, M., Milano, G. M., Tamborini, E., Busico, A., Dagrada, G., Garofalo, C., Caruso, C., Brunello, A., Pignochino, Y., Berrino, E., Grignani, G., Scotlandi, K., Parra, A., ... Maestro, R. (2020). Next-Generation Sequencing Approaches for the Identification of Pathognomonic Fusion Transcripts in Sarcomas: The Experience of the Italian ACC Sarcoma Working Group. Frontiers in Oncology, 10, 1-11. [489]. https://doi.org/10.3389/fonc.2020.00489

Racanelli, D, Brenca, M, Baldazzi, D, Goeman, F, Casini, B, De Angelis, B, Guercio, M, Milano, GM , Tamborini, E , Busico, A, Dagrada, G, Garofalo, C, Caruso, C, Brunello, A, Pignochino, Y, Berrino, E, Grignani, G , Scotlandi, K , Parra, A , Hattinger, CM , Ibrahim, T , Mercatali, L , De Vita, A , Carriero, MV , Pallocca, M , Loria, R , Covello, R, Sbaraglia, M, Dei Tos, AP, Falcioni, R & Maestro, R 2020, 'Next-Generation Sequencing Approaches for the Identification of Pathognomonic Fusion Transcripts in Sarcomas: The Experience of the Italian ACC Sarcoma Working Group', Frontiers in Oncology, vol. 10, 489, pp. 1-11. https://doi.org/10.3389/fonc.2020.00489

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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.",

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AU - Racanelli, Dominga

AU - Brenca, Monica

AU - Baldazzi, Davide

AU - Goeman, Frauke

AU - Casini, Beatrice

AU - De Angelis, Biagio

AU - Guercio, Marika

AU - Milano, Giuseppe Maria

AU - Tamborini, Elena

AU - Busico, Adele

AU - Dagrada, Gianpaolo

AU - Garofalo, Cecilia

AU - Caruso, Chiara

AU - Brunello, Antonella

AU - Pignochino, Ymera

AU - Berrino, Enrico

AU - Grignani, Giovanni

AU - Scotlandi, Katia

AU - Parra, Alessandro

AU - Hattinger, Claudia Maria

AU - Ibrahim, Toni

AU - Mercatali, Laura

AU - De Vita, Alessandro

AU - Carriero, Maria Vincenza

AU - Pallocca, Matteo

AU - Loria, Rossella

AU - Covello, Renato

AU - Sbaraglia, Marta

AU - Dei Tos, Angelo Paolo

AU - Falcioni, Rita

AU - Maestro, Roberta

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AB - 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.

KW - anchored multiplex PCR

KW - fusion transcripts

KW - hybrid capture-based panel

KW - molecular diagnosis

KW - NGS

KW - sarcoma

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DO - 10.3389/fonc.2020.00489

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JF - Frontiers in Oncology

SN - 2234-943X

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ER -

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

Abstract

Keywords

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