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Reference standards for gene fusion molecular assays on cytological samples: an international validation study

Authors :
Malapelle, Umberto
Pepe, Francesco
Pisapia, Pasquale
Altimari, Annalisa
Bellevicine, Claudio
Brunnstrom, Hans
Bruno, Rossella
Buttner, Reinhard
Cirnes, Luis
De Andrea, Carlos E.
de Biase, Dario
Dumur, Catherine, I
Lindquist, Kajsa Ericson
Fontanini, Gabriella
Gautiero, Eugenio
Gentien, David
Hofman, Paul
Hofman, Veronique
Iaccarino, Antonino
Dolores Lozano, Maria
Mayo-de-Las-Casas, Clara
Merkelbach-Bruse, Sabine
Pagni, Fabio
Roman, Ruth
Schmitt, Fernando C.
Siemanowski, Janna
Roy-Chowdhuri, Sinchita
Tallini, Giovanni
Tresserra, Francesc
Vander Borght, Sara
Vielh, Philippe
Vigliar, Elena
Vita, Giulia Anna Carmen
Weynand, Birgit
Rosell, Rafael
Vila, Miguel Angel Molina
Troncone, Giancarlo
Malapelle, Umberto
Pepe, Francesco
Pisapia, Pasquale
Altimari, Annalisa
Bellevicine, Claudio
Brunnstrom, Hans
Bruno, Rossella
Buttner, Reinhard
Cirnes, Luis
De Andrea, Carlos E.
de Biase, Dario
Dumur, Catherine, I
Lindquist, Kajsa Ericson
Fontanini, Gabriella
Gautiero, Eugenio
Gentien, David
Hofman, Paul
Hofman, Veronique
Iaccarino, Antonino
Dolores Lozano, Maria
Mayo-de-Las-Casas, Clara
Merkelbach-Bruse, Sabine
Pagni, Fabio
Roman, Ruth
Schmitt, Fernando C.
Siemanowski, Janna
Roy-Chowdhuri, Sinchita
Tallini, Giovanni
Tresserra, Francesc
Vander Borght, Sara
Vielh, Philippe
Vigliar, Elena
Vita, Giulia Anna Carmen
Weynand, Birgit
Rosell, Rafael
Vila, Miguel Angel Molina
Troncone, Giancarlo

Abstract

Aims Gene fusions assays are key for personalised treatments of advanced human cancers. Their implementation on cytological material requires a preliminary validation that may make use of cell line slides mimicking cytological samples. In this international multi-institutional study, gene fusion reference standards were developed and validated. Methods Cell lines harbouring EML4(13)-ALK(20) and SLC34A2(4)-ROS1(32) gene fusions were adopted to prepare reference standards. Eight laboratories (five adopting amplicon-based and three hybridisation-based platforms) received, at different dilution points two sets of slides (slide A 50.0%, slide B 25.0%, slide C 12.5% and slide D wild type) stained by Papanicolaou (Pap) and May Grunwald Giemsa (MGG). Analysis was carried out on a total of 64 slides. Results Four (50.0%) out of eight laboratories reported results on all slides and dilution points. While 12 (37.5%) out of 32 MGG slides were inadequate, 27 (84.4%) out of 32 Pap slides produced libraries adequate for variant calling. The laboratories using hybridisation-based platforms showed the highest rate of inadequate results (13/24 slides, 54.2%). Conversely, only 10.0% (4/40 slides) of inadequate results were reported by laboratories adopting amplicon-based platforms. Conclusions Reference standards in cytological format yield better results when Pap staining and processed by amplicon-based assays. Further investigation is required to optimise these standards for MGG stained cells and for hybridisation-based approaches.

Details

Database :
OAIster
Notes :
English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1312207970
Document Type :
Electronic Resource