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Abstract/Summary
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<jats:title>Abstract</jats:title><jats:p>The current study assessed the performance of the fully automated RT-PCR-based Idylla™ GeneFusion Assay, which simultaneously covers the advanced non-small cell lung carcinoma (aNSCLC) actionable <jats:italic>ALK</jats:italic>, <jats:italic>ROS1</jats:italic>, <jats:italic>RET</jats:italic>, and <jats:italic>MET</jats:italic> exon 14 rearrangements, in a routine clinical setting involving 12 European clinical centers. The Idylla™ 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 <jats:italic>ALK</jats:italic>, 33 <jats:italic>ROS1</jats:italic>, 20 <jats:italic>RET</jats:italic> fusions and 41 <jats:italic>MET</jats:italic> exon 14 skipping), this is one of the largest fusion-positive datasets ever tested. The results of the Idylla™ 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 <jats:italic>ALK</jats:italic>, 96.7%/99.0% for <jats:italic>ROS1</jats:italic>, 100%/99.3% for <jats:italic>RET</jats:italic> fusion, and 92.5%/99.6% for <jats:italic>MET</jats:italic> exon 14 skipping, and a low failure rate (0.9%). The Idylla™ GeneFusion Assay was found to be a reliable, sensitive, and specific tool for routine detection of <jats:italic>ALK</jats:italic>, <jats:italic>ROS1</jats:italic>, <jats:italic>RET</jats:italic> fusions and <jats:italic>MET</jats:italic> 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.</jats:p>
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