Malapelle, Umberto ORCID: 0000-0003-3211-9957, Pepe, Francesco, Pisapia, Pasquale ORCID: 0000-0002-6429-0620, Altimari, Annalisa, Bellevicine, Claudio, Brunnstrom, Hans ORCID: 0000-0001-7402-138X, Bruno, Rossella, Buttner, Reinhard, Cirnes, Luis, De Andrea, Carlos E., de Biase, Dario ORCID: 0000-0002-0609-8817, 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 ORCID: 0000-0003-0113-6682, Tresserra, Francesc, Vander Borght, Sara, Vielh, Philippe, Vigliar, Elena, Vita, Giulia Anna Carmen, Weynand, Birgit, Rosell, Rafael, Vila, Miguel Angel Molina and Troncone, Giancarlo . Reference standards for gene fusion molecular assays on cytological samples: an international validation study. J. Clin. Pathol.. LONDON: BMJ PUBLISHING GROUP. ISSN 1472-4146

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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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Malapelle, UmbertoUNSPECIFIEDorcid.org/0000-0003-3211-9957UNSPECIFIED
Pepe, FrancescoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pisapia, PasqualeUNSPECIFIEDorcid.org/0000-0002-6429-0620UNSPECIFIED
Altimari, AnnalisaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bellevicine, ClaudioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brunnstrom, HansUNSPECIFIEDorcid.org/0000-0001-7402-138XUNSPECIFIED
Bruno, RossellaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buttner, ReinhardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cirnes, LuisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
De Andrea, Carlos E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de Biase, DarioUNSPECIFIEDorcid.org/0000-0002-0609-8817UNSPECIFIED
Dumur, Catherine, IUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lindquist, Kajsa EricsonUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fontanini, GabriellaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gautiero, EugenioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gentien, DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hofman, PaulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hofman, VeroniqueUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Iaccarino, AntoninoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dolores Lozano, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mayo-de-Las-Casas, ClaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Merkelbach-Bruse, SabineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pagni, FabioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Roman, RuthUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmitt, Fernando C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Siemanowski, JannaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Roy-Chowdhuri, SinchitaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tallini, GiovanniUNSPECIFIEDorcid.org/0000-0003-0113-6682UNSPECIFIED
Tresserra, FrancescUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vander Borght, SaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vielh, PhilippeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vigliar, ElenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vita, Giulia Anna CarmenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weynand, BirgitUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rosell, RafaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vila, Miguel Angel MolinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Troncone, GiancarloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-603690
DOI: 10.1136/jclinpath-2021-207825
Journal or Publication Title: J. Clin. Pathol.
Publisher: BMJ PUBLISHING GROUP
Place of Publication: LONDON
ISSN: 1472-4146
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
CELL LUNG-CANCER; WORLDWIDE RING TRIAL; ALK; CRIZOTINIB; ROS1; REPRODUCIBILITY; IDENTIFICATION; CHEMOTHERAPY; CONSISTENCY; ALECTINIBMultiple languages
PathologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/60369

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