Performances of the Idylla GeneFusion Assay: contribution to a rapid diagnosis of targetable gene fusions in tumour samples.

Autor:	Guillard M; Service d'Anatomie et Cytologie Pathologiques, CHRU Brest, Brest, France., Caumont C; Service de Biologie des Tumeurs, CHU Bordeaux, Pessac, France.; BRIC (BoRdeaux Institute of onCology), UMR1312, INSERM, Université de Bordeaux, Pessac, France., Marcorelles P; Service d'Anatomie et Cytologie Pathologiques, CHRU Brest, Brest, France.; LBAI, UMR1227 INSERM, Université de Bretagne Occidentale, Brest, France., Merlio JP; Service de Biologie des Tumeurs, CHU Bordeaux, Pessac, France.; BRIC (BoRdeaux Institute of onCology), UMR1312, INSERM, Université de Bordeaux, Pessac, France., Cappellen D; Service de Biologie des Tumeurs, CHU Bordeaux, Pessac, France.; BRIC (BoRdeaux Institute of onCology), UMR1312, INSERM, Université de Bordeaux, Pessac, France., Uguen A; Service d'Anatomie et Cytologie Pathologiques, CHRU Brest, Brest, France arnaud.uguen@chu-brest.fr.; LBAI, UMR1227 INSERM, Université de Bretagne Occidentale, Brest, France.
Jazyk:	angličtina
Zdroj:	Journal of clinical pathology [J Clin Pathol] 2024 Jul 18; Vol. 77 (8), pp. 561-567. Date of Electronic Publication: 2024 Jul 18.
DOI:	10.1136/jcp-2023-208798
Abstrakt:	Aims: We aimed to evaluate the performances of the Idylla GeneFusion Assay (IGFA) designed to detect, in a single, rapid and fully automated assay, ALK , ROS1 , RET , NTRK1 , NTRK2 and NTRK3 gene fusions and MET exon 14 skipping in cancer samples. Methods: Based on a set of tumours enriched in cases with gene fusions, we applied the IGFA to tumour areas of various sizes and tumour cell contents. IGFA results were compared with those obtained with other methods (immunohistochemistry, fluorescent in situ hybridisation, DNA and RNA next-generation sequencing). Results: We selected 68 tumours: 49 cases with known gene fusions (8 ALK , 8 ROS1 , 5 RET , 7 NTRK1 , 3 NTRK2 and 6 NTRK3 ones) or MET exon 14 skipping mutations (12 cases) and 19 cases with no fusion and no MET mutation. We performed 128 IGFA tests on distinct tissue areas. The global sensitivity and specificity of the IGFA were, respectively, 62.82% and 99.2% with variations between molecular targets and tissue areas. Of note, 72.5% sensitivity and 98.79% specificity were obtained in 37 tissue areas fulfilling the manufacturer's recommendations (ie, at least 10% of tumour cells in at least 20 mm² of tissue area). The rate of non-conclusive results was higher in small samples with low percentages of tumour cells. Conclusions: The IGFA could contribute to the rapid detection of targetable gene fusions and mutations, especially in context of rapidly growing cancers requiring urgent therapeutic choices. Competing Interests: Competing interests: Biocartis company has provided Idylla dedicated cartridges for this study but has not taken part in data interpretation or manuscript writing in this work. The authors declare no financial or non-financial competing interests in this work. (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze:	MEDLINE
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