{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T12:30:29Z","timestamp":1766493029289,"version":"build-2065373602"},"reference-count":23,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T00:00:00Z","timestamp":1694044800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Thermo Fisher Scientific"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Molecular profiling of solid tumors facilitates personalized, targeted therapeutic interventions. The ability to perform next-generation sequencing (NGS), especially from small tissue samples, in a short turnaround time (TAT) is essential to providing results that enable rapid clinical decisions. This multicenter study evaluated the performance of a CE in vitro diagnostic (IVD) assay, the Oncomine Dx Express Test, on the Ion Torrent Genexus System for detecting DNA and RNA variants in solid tumors. Eighty-two archived formalin-fixed paraffin embedded (FFPE) tissue samples from lung, colorectal, central nervous system, melanoma, breast, gastric, thyroid, and soft tissue cancers were used to assess the presence of single nucleotide variants (SNVs), insertions and deletions (indels), copy number variations (CNVs), gene fusions, and splice variants. These clinical samples were previously characterized at the various academic centers using orthogonal methods. The Oncomine Dx Express Test showed high performance with 100% concordance with previous characterization for SNVs, indels, CNVs, gene fusions, and splice variants. SNVs and indels with allele frequencies as low as 5% were correctly identified. The test detected all the expected ALK, RET, NTRK1, and ROS1 fusion isoforms and MET exon 14-skipping splice variants. The average TAT from extracted nucleic acids to the final variant report was 18.3 h. The Oncomine Dx Express Test in combination with the Ion Torrent Genexus System is a CE-IVD-compliant, performant, and multicenter reproducible method for NGS detection of actionable biomarkers from a range of tumor samples, providing results in a short TAT that could support timely decision- making for targeted therapeutic interventions.<\/jats:p>","DOI":"10.3390\/ijms241813788","type":"journal-article","created":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T09:51:37Z","timestamp":1694080297000},"page":"13788","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["European Real-World Assessment of the Clinical Validity of a CE-IVD Panel for Ultra-Fast Next-Generation Sequencing in Solid Tumors"],"prefix":"10.3390","volume":"24","author":[{"given":"Nicola","family":"Normanno","sequence":"first","affiliation":[{"name":"Cell Biology and Biotherapy Unit, Istituto Nazionale Tumori-IRCCS-Fondazione G. Pascale, 80131 Naples, Italy"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4741-8415","authenticated-orcid":false,"given":"Jos\u00e9 Carlos","family":"Machado","sequence":"additional","affiliation":[{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade (i3S), University of Porto, 4200-135 Porto, Portugal"},{"name":"Institute of Molecular Pathology and Immunology, University of Porto (Ipatimup), 4200-135 Porto, Portugal"},{"name":"Department of Pathology, Faculty of Medicine, University of Porto (FMUP), 4200-319 Porto, Portugal"}]},{"given":"Edoardo","family":"Pescarmona","sequence":"additional","affiliation":[{"name":"I.R.C.C.S. Regina Elena National Cancer Institute, 00144 Rome, Italy"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5066-1523","authenticated-orcid":false,"given":"Simonetta","family":"Buglioni","sequence":"additional","affiliation":[{"name":"I.R.C.C.S. 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Pascale, 80131 Naples, Italy"}]},{"given":"Virginie","family":"Lespinet-Fabre","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical and Experimental Pathology, Biobank BB-0033-00025, FHU OncoAge, IHU RespirERA, CHU de Nice, Universit\u00e9 C\u00f4te d\u2019Azur, 06000 Nice, France"}]},{"given":"Byron","family":"Calgua","sequence":"additional","affiliation":[{"name":"Institute of Pathology, University Hospital Basel, 4031 Basel, Switzerland"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8836-4946","authenticated-orcid":false,"given":"Philip M.","family":"Jermann","sequence":"additional","affiliation":[{"name":"Institute of Pathology, University Hospital Basel, 4031 Basel, Switzerland"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2014-1236","authenticated-orcid":false,"given":"Marius","family":"Ili\u00e9","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical and Experimental Pathology, Biobank BB-0033-00025, FHU OncoAge, IHU RespirERA, CHU de Nice, Universit\u00e9 C\u00f4te d\u2019Azur, 06000 Nice, France"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0431-9353","authenticated-orcid":false,"given":"Paul","family":"Hofman","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical and Experimental Pathology, Biobank BB-0033-00025, FHU OncoAge, IHU RespirERA, CHU de Nice, Universit\u00e9 C\u00f4te d\u2019Azur, 06000 Nice, France"}]}],"member":"1968","published-online":{"date-parts":[[2023,9,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"711","DOI":"10.21037\/tlcr-21-981","article-title":"Rapid genomic profiling of circulating tumor DNA in non-small cell lung cancer using Oncomine Precision Assay with Genexus integrated sequencer","volume":"11","author":"Low","year":"2022","journal-title":"Transl. 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