{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T12:27:12Z","timestamp":1780489632832,"version":"3.54.1"},"reference-count":56,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,12,29]],"date-time":"2019-12-29T00:00:00Z","timestamp":1577577600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["DP5 OD021403"],"award-info":[{"award-number":["DP5 OD021403"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Brain Pathology"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Desmoplastic small round cell tumors (DSRCTs) are highly aggressive sarcomas that most commonly occur intra\u2010abdominally, and are defined by <jats:italic>EWSR1<\/jats:italic>\u2010<jats:italic>WT1<\/jats:italic> gene fusion. Intracranial DSRCTs are exceptionally rare with only seven previously reported fusion\u2010positive cases. Herein, we evaluate the clinical, morphologic, immunohistochemical and molecular features of five additional examples. All patients were male (age range 6\u201325\u00a0years; median 11\u00a0years), with four tumors located supratentorially and one within the posterior fossa. The histologic features were highly variable including small cell, embryonal, clear cell, rhabdoid, anaplastic and glioma\u2010like appearances. A prominent desmoplastic stroma was seen in only two cases. The mitotic index ranged from &lt;1 to 12\/10 HPF (median 5). While all tumors showed strong desmin positivity, epithelial markers such as EMA, CAM 5.2 and other keratins were strongly positive in only one, focally positive in two and negative in two cases. <jats:italic>EWSR1<\/jats:italic>\u2010<jats:italic>WT1<\/jats:italic> gene fusion was present in all cases, with accompanying mutations in the <jats:italic>TERT<\/jats:italic> promoter or <jats:italic>STAG2<\/jats:italic> gene in individual cases. Given the significant histologic diversity, in the absence of genetic evaluation these cases could easily be misinterpreted as other entities. Desmin immunostaining is a useful initial screening method for consideration of a DSRCT diagnosis, prompting confirmatory molecular testing. Demonstrating the presence of an <jats:italic>EWSR1<\/jats:italic>\u2010<jats:italic>WT1<\/jats:italic> fusion provides a definitive diagnosis of DSRCT. Genome\u2010wide methylation profiles of intracranial DSRCTs matched those of extracranial DSRCTs. Thus, despite the occasionally unusual histologic features and immunoprofile, intracranial DSRCTs likely represent a similar, if not the same, entity as their soft tissue counterpart based on the shared fusion and methylation profiles.<\/jats:p>","DOI":"10.1111\/bpa.12809","type":"journal-article","created":{"date-parts":[[2019,12,14]],"date-time":"2019-12-14T12:07:11Z","timestamp":1576325231000},"page":"213-225","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Clinicopathologic and molecular features of intracranial desmoplastic small round cell tumors"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0138-4862","authenticated-orcid":false,"given":"Julieann C.","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pathology University of California San Francisco CA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier 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