{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T16:03:53Z","timestamp":1791821033664,"version":"4.3.4"},"reference-count":22,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,7,13]],"date-time":"2022-07-13T00:00:00Z","timestamp":1657670400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP21K06919"],"award-info":[{"award-number":["JP21K06919"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015322","name":"National Cancer Center Japan","doi-asserted-by":"publisher","award":["G007"],"award-info":[{"award-number":["G007"]}],"id":[{"id":"10.13039\/100015322","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>CIC<\/jats:italic>\u2010rearranged sarcoma is a high\u2010grade sarcoma, most often harboring <jats:italic>CIC::DUX4<\/jats:italic> fusion, and is characterized by a distinct round cell histology, co\u2010expression of ETV4 and WT1, and a specific DNA methylation class. Herein, we report a brain tumor with <jats:italic>ATXN1::DUX4<\/jats:italic> that had an indistinguishable phenotype and DNA methylation profile from <jats:italic>CIC<\/jats:italic>\u2010rearranged sarcoma. A 40\u2010year\u2010old man presented with a 5\u00a0cm hemorrhagic mass in the right frontal lobe of the cerebrum. The tumor was resected and histologically showed a dense proliferation of relatively monomorphic round cells with multifocal myxoid changes. Immunohistochemically, the tumor was diffusely positive for ETV4, WT1, and DUX4. Through classic histomorphology and immunoprofile, the tumor was provisionally diagnosed as <jats:italic>CIC<\/jats:italic>\u2010rearranged sarcoma. However, no <jats:italic>CIC<\/jats:italic> fusions or mutations were identified using <jats:italic>CIC<\/jats:italic> break\u2010apart fluorescence in situ hybridization (FISH) or FoundationOne CDx. Despite multiple surgeries and adjuvant chemoradiation therapy, the patient succumbed 16\u2009months after presentation. RNA exome sequencing detected an in\u2010frame intraexonic <jats:italic>ATXN1<\/jats:italic> (exon 9)<jats:italic>::DUX4<\/jats:italic> (exon 1) fusion, which was validated by reverse transcription\u2010polymerase chain reaction and <jats:italic>ATXN1<\/jats:italic> FISH assay. Upon DNA methylation analysis, the tumor matched with <jats:italic>CIC<\/jats:italic>\u2010rearranged sarcoma both by the Deutsche Krebsforschungszentrum classifier and t\u2010distributed stochastic neighbor embedding. Along with a recent report of a similar pediatric brain tumor, the present case suggests that <jats:italic>ATXN1::DUX4<\/jats:italic> is a recurrent alternative molecular event in the sarcoma type that is presently defined by <jats:italic>CIC<\/jats:italic> rearrangement, which prompts an expansion of the tumor concept.<\/jats:p>","DOI":"10.1002\/gcc.23080","type":"journal-article","created":{"date-parts":[[2022,6,18]],"date-time":"2022-06-18T04:08:28Z","timestamp":1655525308000},"page":"683-688","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Central nervous system sarcoma with <scp><i>ATXN1<\/i><\/scp><i>::<\/i><scp><i>DUX4<\/i><\/scp> fusion expands the concept of <scp><i>CIC<\/i><\/scp>\u2010rearranged sarcoma"],"prefix":"10.1002","volume":"61","author":[{"given":"Kaishi","family":"Satomi","sequence":"first","affiliation":[{"name":"Department of Diagnostic Pathology National Cancer Center Hospital  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8031-4306","authenticated-orcid":false,"given":"Makoto","family":"Ohno","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery and Neuro\u2010Oncology National Cancer Center Hospital  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Kubo","sequence":"additional","affiliation":[{"name":"Division of Cancer Genomics National Cancer Center Research Institute  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mai","family":"Honda\u2010Kitahara","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery and Neuro\u2010Oncology National Cancer Center Hospital  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuko","family":"Matsushita","sequence":"additional","affiliation":[{"name":"Department of Brain Disease Translational Research Juntendo University Faculty of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koichi","family":"Ichimura","sequence":"additional","affiliation":[{"name":"Department of Brain Disease Translational Research Juntendo University Faculty of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshitaka","family":"Narita","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery and Neuro\u2010Oncology National Cancer Center Hospital  Tokyo Japan"},{"name":"Rare Cancer Center National Cancer Center Hospital  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0142-2240","authenticated-orcid":false,"given":"Hitoshi","family":"Ichikawa","sequence":"additional","affiliation":[{"name":"Division of Cancer Genomics National Cancer Center Research Institute  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3373-0099","authenticated-orcid":false,"given":"Akihiko","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Pathology National Cancer Center Hospital  Tokyo Japan"},{"name":"Rare Cancer Center National Cancer Center Hospital  Tokyo 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