Depoilly, Thomas, Garinet, Simon, Kempen, Leon C. van, Schuuring, Ed ORCID: 0000-0003-3655-143X, Clave, Sergi, Bellosillo, Beatriz, Ercolani, Cristiana, Buglioni, Simonetta, Siemanowski, Janna, Merkelbach-Bruse, Sabine, Tischler, Verena, Demes, Melanie-Christin, Paridaens, Henry, Sibille, Catherine, Montpreville, Vincent Thomas de, Rouleau, Etienne, Bartczak, Artur, Pasieka-Lis, Monika, Wei, Ryan Yee, Chuah, Khoon Leong, Barbosa, Marta, Quintana, Carlos, Biscuola, Michele, Delgado-Garcia, Mercedes, Vacirca, Davide, Rappa, Alessandra, Cashmore, Matthew, Smith, Matthew, Jasionowicz, Piotr, Meeney, Adam, Desmeules, Patrice, Terris, Benoit and Mansuet-Lupo, Audrey (2022). Multicenter Evaluation of the Idylla GeneFusion in Non-Small-Cell Lung Cancer. J. Mol. Diagn., 24 (9). S. 1021 - 1031. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1943-7811

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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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Depoilly, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garinet, SimonUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kempen, Leon C. vanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schuuring, EdUNSPECIFIEDorcid.org/0000-0003-3655-143XUNSPECIFIED
Clave, SergiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bellosillo, BeatrizUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ercolani, CristianaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buglioni, SimonettaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Siemanowski, JannaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Merkelbach-Bruse, SabineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tischler, VerenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Demes, Melanie-ChristinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Paridaens, HenryUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sibille, CatherineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Montpreville, Vincent Thomas deUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rouleau, EtienneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bartczak, ArturUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pasieka-Lis, MonikaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wei, Ryan YeeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chuah, Khoon LeongUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Barbosa, MartaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Quintana, CarlosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Biscuola, MicheleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Delgado-Garcia, MercedesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vacirca, DavideUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rappa, AlessandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cashmore, MatthewUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Smith, MatthewUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jasionowicz, PiotrUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Meeney, AdamUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Desmeules, PatriceUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Terris, BenoitUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mansuet-Lupo, AudreyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-697225
DOI: 10.1016/j.jmoldx.2022.05.004
Journal or Publication Title: J. Mol. Diagn.
Volume: 24
Number: 9
Page Range: S. 1021 - 1031
Date: 2022
Publisher: ELSEVIER SCIENCE INC
Place of Publication: NEW YORK
ISSN: 1943-7811
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
RET FUSIONS; ALK; NTRK; REARRANGEMENTS; MUTATIONS; TARGET; EGFR; ROS1; METMultiple languages
PathologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/69722

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