Multicenter evaluation of the idylla genefusion in non-small-cell lung cancer.
Depoilly, Thomas Garinet, Simon van Kempen, Léon C Schuuring, Ed Clavé, Sergi Bellosillo, Beatriz Ercolani, Cristiana Buglioni, Simonetta Siemanowski, Janna Merkelbach-Bruse, Sabine
Depoilly, Thomas
Garinet, Simon
van Kempen, Léon C
Schuuring, Ed
Clavé, Sergi
Bellosillo, Beatriz
Ercolani, Cristiana
Buglioni, Simonetta
Siemanowski, Janna
Merkelbach-Bruse, Sabine
Abstract
Targeted therapy in lung cancer requires the assessment of multiple oncogenic driver alterations, including fusion genes. This retrospective study evaluated the Idylla GeneFusion prototype, an automated and ease-of-use (<2 minutes) test, with a short turnaround time (3 hours) to detect fusions involving ALK, ROS1, RET, and NTRK1/2/3 genes and MET exon 14 skipping. This multicenter study (18 centers) included 313 tissue samples from lung cancer patients with 97 ALK, 44 ROS1, 20 RET, and 5 NTRKs fusions, 32 MET exon 14 skipping, and 115 wild-type samples, previously identified with reference methods (RNA-based next-generation sequencing/fluorescence in situ hybridization/quantitative PCR). Valid results were obtained for 306 cases (98%), overall concordance between Idylla and the reference methods was 89% (273/306); overall sensitivity and specificity were 85% (165/193) and 96% (108/113), respectively. Discordances were observed in 28 samples, where Idylla did not detect the alteration identified by the reference methods; and 5 samples where Idylla identified an alteration not detected by the reference methods. All of the ALK-, ROS1-, and RET-specific fusions and MET exon 14 skipping identified by Idylla GeneFusion were confirmed by reference method. To conclude, Idylla GeneFusion is a clinically valuable test that does not require a specific infrastructure, allowing a rapid result. The absence of alteration or the detection of expression imbalance only requires additional testing by orthogonal methods.
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2022-06-16
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Depoilly T, Garinet S, van Kempen LC, Schuuring E, Clavé S, Bellosillo B, Ercolani C, Buglioni S, Siemanowski J, Merkelbach-Bruse S, Tischler V, Demes MC, Paridaens H, Sibille C, de Montpreville VT, Rouleau E, Bartczak A, Pasieka-Lis M, Teo RYW, Chuah KL, Barbosa M, Quintana C, Biscuola M, Delgado-Garcia M, Vacirca D, Rappa A, Cashmore M, Smith M, Jasionowicz P, Meeney A, Desmeules P, Terris B, Mansuet-Lupo A. Multicenter Evaluation of the Idylla GeneFusion in Non-Small-Cell Lung Cancer. J Mol Diagn. 2022 Sep;24(9):1021-1030. doi: 10.1016/j.jmoldx.2022.05.004. Epub 2022 Jun 16