{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T16:27:15Z","timestamp":1789576035346,"version":"build-2803163510"},"reference-count":83,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,7,8]],"date-time":"2021-07-08T00:00:00Z","timestamp":1625702400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Salivary gland tumors represent a diverse group of neoplasms that occasionally pose a diagnostic challenge for pathologists, particularly with limited sampling. Gene fusions, which may reflect genetic drivers, are increasingly recognized in a subset of these neoplasms, and can be leveraged for diagnostic purposes. We performed a retrospective analysis on a cohort of 80 benign and malignant salivary gland tumors, enriched for subtypes known to harbor recurrent fusion events, to validate the diagnostic use of a targeted RNA sequencing assay to detect fusion transcripts. Testing identified fusion genes in 71% (24\/34) of pleomorphic adenoma and carcinoma\u2010ex\u2010pleomorphic adenoma, with 56% of cases showing rearrangement of <jats:italic>PLAG1<\/jats:italic> and 15% <jats:italic>HMGA2<\/jats:italic>. In addition to confirming known partners for these genes, novel <jats:italic>PLAG1<\/jats:italic> fusion partners were identified, including <jats:italic>DSTN<\/jats:italic>, <jats:italic>NTF3<\/jats:italic>, and <jats:italic>MEG3<\/jats:italic>; <jats:italic>CNOT2<\/jats:italic> was identified as a novel fusion partner for <jats:italic>HMGA2<\/jats:italic>. In adenoid cystic carcinoma, 95% of cases (19\/20) were positive for a fusion event. <jats:italic>MYB<\/jats:italic> was rearranged in 60% (12\/20), <jats:italic>MYBL1<\/jats:italic> in 30% (6\/20), and <jats:italic>NFIB<\/jats:italic> in 5% (1\/20); two tumors exhibited novel fusion products, including <jats:italic>NFIB\u2010TBPL1<\/jats:italic> and <jats:italic>MYBL1\u2010VCPIP1<\/jats:italic>. Fusion genes were identified in 64% (9\/14) of cases of mucoepidermoid carcinoma; <jats:italic>MAML2<\/jats:italic> was confirmed to partner with either <jats:italic>CRTC1<\/jats:italic> (43%) or <jats:italic>CRTC3<\/jats:italic> (21%). One salivary duct carcinoma was found to harbor a novel <jats:italic>RAPGEF6<\/jats:italic>\u2010<jats:italic>ACSL6<\/jats:italic> fusion gene. Finally, as anticipated, gene fusions were not detected in any of the five acinic cell carcinomas included in the cohort. In summary, targeted RNA sequencing represents a diagnostically useful ancillary technique for identifying a variety of existing, and novel, fusion transcripts in the classification of salivary gland neoplasms.<\/jats:p>","DOI":"10.1002\/gcc.22979","type":"journal-article","created":{"date-parts":[[2021,6,27]],"date-time":"2021-06-27T14:25:18Z","timestamp":1624803918000},"page":"695-708","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Targeted <scp>RNA<\/scp> sequencing in the routine clinical detection of fusion genes in salivary gland tumors"],"prefix":"10.1002","volume":"60","author":[{"given":"Justin","family":"Bubola","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Mount Sinai Hospital  Toronto Ontario Canada"},{"name":"Faculty of Dentistry University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina 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