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
Citations
Altmetric:
Affiliation
Other Contributors
Publication date
2022-06-16
Subject
Collections
Research Projects
Organizational Units
Journal Issue
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.
Citation
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
Type
Article