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Their detection are essential for the management of patients since they confer sensitivity to specific targeted therapies with significant clinical benefit over conventional chemotherapy. Immunohistochemistry (IHC) and fluorescent in situ hybridization (FISH) account for historical reference techniques however molecular-based technologies (RNA-based sequencing and RT-PCR) are emerging as alternative or complementary methods. Here, we evaluated the analytical performance of the fully-automated RT-PCR Idylla GeneFusion assay compared to reference methods using 35 fixed NSCLC samples. Idylla demonstrated overall agreement, sensitivity and specificity of 100% compared to RNASeq. Interestingly, it succeeded in retrieving 10 out of 11 samples with inconclusive results due to insufficient RNA quality for sequencing. Idylla showed an overall agreement, sensitivity and specificity of 90.32%, 91.67% and 89.47% compared to IHC\/FISH respectively. Using commercial standards, the limit of detection of the Idylla system for the most frequent fusions and exon skipping ranges between 5 and 10\u00a0ng RNA input. These results support that the Idylla assay is a reliable and rapid option for the detection of these alterations, however a particular attention is needed for the interpretation of the expression imbalance.\n                  <\/jats:p>","DOI":"10.1038\/s41598-023-39749-4","type":"journal-article","created":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T06:01:36Z","timestamp":1691560896000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Validation of the Idylla GeneFusion assay to detect fusions and MET exon-skipping in non-small cell lung cancers"],"prefix":"10.1038","volume":"13","author":[{"given":"Pauline","family":"Gilson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celso","family":"Pouget","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Belmonte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Smahane","family":"Fadil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Demange","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Rouyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Lacour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaux","family":"Betz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Dardare","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9a","family":"Witz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Louis","family":"Merlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Harl\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,8,9]]},"reference":[{"key":"39749_CR1","doi-asserted-by":"publisher","first-page":"209","DOI":"10.3322\/caac.21660","volume":"71","author":"H Sung","year":"2021","unstructured":"Sung, H. et al. Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J. Clin. 71, 209\u2013249 (2021).","journal-title":"CA Cancer J. Clin."},{"key":"39749_CR2","doi-asserted-by":"publisher","first-page":"355","DOI":"10.4065\/83.3.355","volume":"83","author":"T Sher","year":"2008","unstructured":"Sher, T., Dy, G. K. & Adjei, A. A. Small cell lung cancer. Mayo Clin. Proc. 83, 355\u2013367 (2008).","journal-title":"Mayo Clin. Proc."},{"key":"39749_CR3","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1016\/j.jtho.2021.11.003","volume":"17","author":"AG Nicholson","year":"2022","unstructured":"Nicholson, A. G. et al. The 2021 WHO classification of lung tumors: Impact of advances since 2015. J. Thorac. Oncol. 17, 362\u2013387 (2022).","journal-title":"J. Thorac. Oncol."},{"key":"39749_CR4","unstructured":"Travis, W. D. et al. The 2015 World Health Organization Classification of Lung Tumors: Impact of genetic, clinical and radiologic advances since the 2004 classification. J. Thorac. Oncol. Off. Publ. Int. Assoc. Study Lung Cancer 10, 1243\u20131260 (2015)."},{"key":"39749_CR5","doi-asserted-by":"publisher","first-page":"764","DOI":"10.1001\/jama.2019.11058","volume":"322","author":"KC Arbour","year":"2019","unstructured":"Arbour, K. C. & Riely, G. J. Systemic therapy for locally advanced and metastatic non-small cell lung cancer: A review. JAMA 322, 764\u2013774 (2019).","journal-title":"JAMA"},{"key":"39749_CR6","doi-asserted-by":"crossref","unstructured":"Hendriks, L. E. et al. Oncogene-addicted metastatic non-small-cell lung cancer: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up. Ann. Oncol. 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Tepotinib in non-small-cell lung cancer with MET exon 14 skipping mutations. N. Engl. J. Med. 383, 931\u2013943 (2020).","journal-title":"N. Engl. J. Med."},{"key":"39749_CR18","doi-asserted-by":"publisher","first-page":"944","DOI":"10.1056\/NEJMoa2002787","volume":"383","author":"J Wolf","year":"2020","unstructured":"Wolf, J. et al. Capmatinib in MET exon 14-mutated or MET-amplified non-small-cell lung cancer. N. Engl. J. Med. 383, 944\u2013957 (2020).","journal-title":"N. Engl. J. Med."},{"key":"39749_CR19","doi-asserted-by":"crossref","unstructured":"Guo, R. et al. MET IHC is a poor screen for MET amplification or MET exon 14 mutations in lung adenocarcinomas: Data from a Tri-Institutional Cohort of the Lung Cancer Mutation Consortium. J. Thorac. Oncol. Off. Publ. Int. Assoc. 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