{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T13:51:46Z","timestamp":1760709106978},"reference-count":49,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2016,7,28]],"date-time":"2016-07-28T00:00:00Z","timestamp":1469664000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:p>We have previously identified two <jats:italic>ALK<\/jats:italic> rearrangements in a subset of ependymal tumors using a combination of cytogenetic data and RNA sequencing. The aim of this study was to perform an unbiased search for fusion transcripts in our entire series of ependymal tumors. Fusion analysis was performed using the FusionCatcher algorithm on 12 RNA\u2010sequenced ependymal tumors. Candidate transcripts were prioritized based on the software's filtering and manual visualization using the BLAST (Basic Local Alignment Search Tool) and BLAT (BLAST\u2010like alignment tool) tools. Genomic and reverse transcriptase PCR with subsequent Sanger sequencing was used to validate the potential fusions. Fluorescent in situ hybridization (FISH) using locus\u2010specific probes was also performed. A total of 841 candidate chimeric transcripts were identified in the 12 tumors, with an average of 49 unique candidate fusions per tumor. After algorithmic and manual filtering, the final list consisted of 24 potential fusion events. Raw RNA\u2010seq read sequences and PCR validation supports two novel fusion genes: a reciprocal fusion gene involving <jats:italic>UQCR10<\/jats:italic> and <jats:italic>C1orf194<\/jats:italic> in an adult spinal ependymoma and a <jats:italic>TSPAN4\u2010CD151<\/jats:italic> fusion gene in a pediatric infratentorial anaplastic ependymoma. Our previously reported <jats:italic>ALK<\/jats:italic> rearrangements and the <jats:italic>RELA<\/jats:italic> and <jats:italic>YAP1<\/jats:italic> fusions found in supratentorial ependymomas were until now the only known fusion genes present in ependymal tumors. The chimeric transcripts presented here are the first to be reported in infratentorial or spinal ependymomas. Further studies are required to characterize the genomic rearrangements causing these fusion genes, as well as the frequency and functional importance of the fusions. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/gcc.22392","type":"journal-article","created":{"date-parts":[[2016,7,12]],"date-time":"2016-07-12T09:31:35Z","timestamp":1468315895000},"page":"944-953","source":"Crossref","is-referenced-by-count":13,"title":["Novel fusion genes and chimeric transcripts in ependymal tumors"],"prefix":"10.1002","volume":"55","author":[{"given":"Thale Kristin","family":"Olsen","sequence":"first","affiliation":[{"name":"Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics Oslo University Hospital  Norway"},{"name":"Centre for Cancer Biomedicine, Faculty of Medicine University of Oslo  Norway"},{"name":"Institute of Clinical Medicine, Faculty of Medicine University of Oslo  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