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

Autores: Malapelle, U.; Pepe, F.; Pisapia, P.; Altimari, A.; Bellevicine, C.; Brunnstrom, H.; Bruno, R.; Buttner, R.; Cirnes, L.; De Andrea, Carlos Eduardo; de Biase, D.; Dumur, C. I.; Lindquist, K. E.; Fontanini, G.; Gautiero, E.; Gentien, D.; Hofman, P.; Hofman, V.; Iaccarino, A.; Lozano Escario, María Dolores; Mayo-de-Las-Casas, C.; Merkelbach-Bruse, S.; Pagni, F.; Roman, R.; Schmitt, F. C.; Siemanowski, J.; Roy-Chowdhuri, S.; Tallini, G.; Tresserra, F.; Vander Borght, S.; Vielh, P.; Vigliar, E.; Vita, G. A. C.; Weynand, B.; Rosell, R.; Molina Vila, M. A.; Troncone, G. (Autor de correspondencia)
ISSN: 0021-9746
Volumen: 76
Número: 1
Páginas: 47 - 52
Fecha de publicación: 2023
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.