{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:58:35Z","timestamp":1791928715354,"version":"4.3.4"},"reference-count":44,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,2,17]],"date-time":"2022-02-17T00:00:00Z","timestamp":1645056000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100013501","name":"CNIB","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013501","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010463","name":"Institut Curie","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010463","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["pathsocjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pathology CR"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>BCOR\u2010ITD tumours form an emerging family of aggressive entities with an internal tandem duplication (ITD) in the last exon of the <jats:italic>BCOR<\/jats:italic> gene. The family includes cerebral tumours, termed central nervous system <jats:italic>BCOR<\/jats:italic>\u2010ITD (CNS <jats:italic>BCOR<\/jats:italic>\u2010ITD), and sarcomatous types described in the kidney as clear cell sarcoma of the kidney (CCSK), in the endometrium as high\u2010grade endometrial stromal sarcoma, and in the bone and soft tissue as undifferentiated round cell sarcoma or primitive myxoid mesenchymal tumour of infancy. Based on a series of 33 retrospective cases, including 10 CNS <jats:italic>BCOR<\/jats:italic>\u2010ITD and 23 <jats:italic>BCOR<\/jats:italic>\u2010ITD sarcomas, we interrogated the homogeneity of the entity regarding clinical, radiological, and histopathological findings, and molecular signatures. Whole\u2010transcriptomic sequencing and DNA methylation profiling were used for unsupervised clustering. <jats:italic>BCOR<\/jats:italic>\u2010ITD tumours mostly affected young children with a median age at diagnosis of 2.1\u2009years (range 0\u201362.4). Median overall survival was 3.9\u2009years and progression\u2010free survival was 1.4\u2009years. This dismal prognosis is shared among tumours in all locations except CCSK. Histopathological review revealed marked differences between CNS <jats:italic>BCOR<\/jats:italic>\u2010ITD and <jats:italic>BCOR<\/jats:italic>\u2010ITD sarcomas. These two groups were consistently segregated by unsupervised clustering of expression (<jats:italic>n<\/jats:italic>\u00a0=\u00a022) and DNA methylation (<jats:italic>n<\/jats:italic>\u00a0=\u00a021) data. Proximity between the two groups may result from common somatic changes within key pathways directly related to the novel activity of the ITD itself. Conversely, comparison of gene signatures with single\u2010cell RNA\u2010Seq atlases suggests that the distinction between <jats:italic>BCOR<\/jats:italic>\u2010ITD sarcomas and CNS <jats:italic>BCOR<\/jats:italic>\u2010ITD may result from differences in cells of origin.<\/jats:p>","DOI":"10.1002\/cjp2.255","type":"journal-article","created":{"date-parts":[[2022,2,17]],"date-time":"2022-02-17T03:34:10Z","timestamp":1645068850000},"page":"217-232","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Intra\u2010 and extra\u2010cranial <scp><i>BCOR\u2010<\/i>ITD<\/scp> tumours are separate entities within the <scp><i>BCOR<\/i><\/scp>\u2010rearranged family"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9965-6573","authenticated-orcid":false,"given":"Yassine","family":"Bouchoucha","sequence":"first","affiliation":[{"name":"SIREDO Oncology Center of Care, Innovation and Research for 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