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

• Type: Article in International Scientific Journal
• Date: 2021

Authors

Malapelle, U (Author) Other; Pepe, F (Author) Other; Pisapia, P (Author) Other; Altimari, A (Author) Other; Bellevicine, C (Author) Other; Brunnstrom, H (Author) Other; Bruno, R (Author) Other; Buttner, R (Author) Other; Cirnes, L (Author) Other; De Andrea, CE (Author) Other; de Biase, D (Author) Other; Dumur, CI (Author) Other; Lindquist, KE (Author) Other; Fontanini, G (Author) Other; Gautiero, E (Author) Other; Gentien, D (Author) Other; Hofman, P (Author) Other; Hofman, V (Author) Other; Iaccarino, A (Author) Other; Lozano, MD (Author) Other; Mayo de Las Casas, C (Author) Other; Merkelbach Bruse, S (Author) Other; Pagni, F (Author) Other; Roman, R (Author) Other; Fernando Schmitt (Author) FMUP; Siemanowski, J (Author) Other; Roy Chowdhuri, S (Author) Other; Tallini, G (Author) Other; Tresserra, F (Author) Other; Vander Borght, S (Author) Other; Vielh, P (Author) Other; Vigliar, E (Author) Other; Vita, GAC (Author) Other; Weynand, B (Author) Other; Rosell, R (Author) Other; Vila, MAM (Author) Other; Troncone, G (Author) Other

Journal

Title: JOURNAL OF CLINICAL PATHOLOGY

ISSN: 0021-9746

Indexing

ISI Web of Knowledge - 8 Citations

Other information

Authenticus ID: P-00V-M2V

DOI: 10.1136/jclinpath-2021-207825

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Dissemination

No. of pages: 6