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. 2020 Apr 15:10:489.
doi: 10.3389/fonc.2020.00489. eCollection 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  1 , Monica Brenca  1 , Davide Baldazzi  1 , Frauke Goeman  2 , Beatrice Casini  2 , Biagio De Angelis  3 , Marika Guercio  3 , Giuseppe Maria Milano  3 , Elena Tamborini  4 , Adele Busico  4 , Gianpaolo Dagrada  4 , Cecilia Garofalo  5 , Chiara Caruso  5 , Antonella Brunello  6 , Ymera Pignochino  7 , Enrico Berrino  8 , Giovanni Grignani  7 , Katia Scotlandi  9 , Alessandro Parra  9 , Claudia Maria Hattinger  9 , Toni Ibrahim  10 , Laura Mercatali  10 , Alessandro De Vita  10 , Maria Vincenza Carriero  11 , Matteo Pallocca  2 , Rossella Loria  2 , Renato Covello  2 , Marta Sbaraglia  12 , Angelo Paolo Dei Tos  12   13 , Rita Falcioni  2 , Roberta Maestro  1
Affiliations

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

Dominga Racanelli et al. Front Oncol. .

Erratum in

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

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Figures

Figure 1
Figure 1
Representative graphical output of Archer Analysis (top) and Illumina BaseSpace RNA-Seq Alignment (bottom) tools. The EWSR1-FLI1 fusion detected in sample #2 by both AMP-FPS and HC panels is shown.
Figure 2
Figure 2
PAX3-MAML3 fusion detected by the customized AMP-FPS panel in a representative case of biphenotypic sinonasal sarcoma (sample #123). The top panel shows the output of the Archer Analysis tool. The bottom panel shows the validation of the fusion by RT-PCR sequencing.
See this image and copyright information in PMC

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