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Multicenter evaluation of an automated, multiplex, RNA-based molecular assay for detection of ALK, ROS1, RET fusions and MET exon 14 skipping in NSCLC

L. Melchior, A. Hirschmann, P. Hofman, C. Bontoux, A. Concha, S. Mrabet-Dahbi, P. Vannuffel, E. Watkin, M. Putzová, S. Scarpino, A. Cayre, P. Martin, R. Stoehr, A. Hartmann

. 2024 ; 484 (4) : 677-686. [pub] 20240316

Language English Country Germany

Document type Journal Article, Multicenter Study, Evaluation Study

Persistent link   https://www.medvik.cz/link/bmc24014440
E-resources Online Full text

NLK ProQuest Central from 2003-01-01 to 1 year ago
Medline Complete (EBSCOhost) from 2011-01-01 to 1 year ago
Nursing & Allied Health Database (ProQuest) from 2003-01-01 to 1 year ago
Health & Medicine (ProQuest) from 2003-01-01 to 1 year ago

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PubMed 38492039
DOI 10.1007/s00428-024-03778-9
Knihovny.cz E-resources

The current study assessed the performance of the fully automated RT-PCR-based IdyllaTM GeneFusion Assay, which simultaneously covers the advanced non-small cell lung carcinoma (aNSCLC) actionable ALK, ROS1, RET, and MET exon 14 rearrangements, in a routine clinical setting involving 12 European clinical centers. The IdyllaTM GeneFusion Assay detects fusions using fusion-specific as well as expression imbalance detection, the latter enabling detection of uncommon fusions not covered by fusion-specific assays. In total, 326 archival aNSCLC formalin-fixed paraffin-embedded (FFPE) samples were included of which 44% were resected specimen, 46% tissue biopsies, and 9% cytological specimen. With a total of 179 biomarker-positive cases (i.e., 85 ALK, 33 ROS1, 20 RET fusions and 41 MET exon 14 skipping), this is one of the largest fusion-positive datasets ever tested. The results of the IdyllaTM GeneFusion Assay were compared with earlier results of routine reference technologies including fluorescence in situ hybridization, immunohistochemistry, reverse-transcription polymerase chain reaction, and next-generation sequencing, establishing a high sensitivity/specificity of 96.1%/99.6% for ALK, 96.7%/99.0% for ROS1, 100%/99.3% for RET fusion, and 92.5%/99.6% for MET exon 14 skipping, and a low failure rate (0.9%). The IdyllaTM GeneFusion Assay was found to be a reliable, sensitive, and specific tool for routine detection of ALK, ROS1, RET fusions and MET exon 14 skipping. Given its short turnaround time of about 3 h, it is a time-efficient upfront screening tool in FFPE samples, supporting rapid clinical decision making. Moreover, expression-imbalance-based detection of potentially novel fusions may be easily verified with other routine technologies without delaying treatment initiation.

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