{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:01:09Z","timestamp":1787770869918,"version":"build-2784847793"},"reference-count":36,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2016,6,24]],"date-time":"2016-06-24T00:00:00Z","timestamp":1466726400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100005651","name":"Computing Research Association","doi-asserted-by":"publisher","award":["P50CA140146\u201001"],"award-info":[{"award-number":["P50CA140146\u201001"]}],"id":[{"id":"10.13039\/100005651","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:p>SMARCB1 inactivation occurs in a variety of tumors, being caused by various genetic mechanisms. Since <jats:italic>SMARCB1<\/jats:italic> and <jats:italic>EWSR1<\/jats:italic> genes are located close to each other on chromosome 22, larger <jats:italic>SMARCB1<\/jats:italic> deletions may encompass the <jats:italic>EWSR1<\/jats:italic> locus. Herein, we report four cases with <jats:italic>SMARCB1<\/jats:italic>\u2010deletions showing concurrent <jats:italic>EWSR1<\/jats:italic> gene abnormalities by FISH, which lead initially to misinterpretations as <jats:italic>EWSR1<\/jats:italic>\u2010rearranged tumors. Our study group included various morphologies: a poorly differentiated chordoma, an extrarenal rhabdoid tumor, a myoepithelial carcinoma, and a proximal\u2010type epithelioid sarcoma. All cases showed loss of SMARCB1 (INI1) by immunohistochemistry (IHC) and displayed characteristic histologic features for the diagnoses. The <jats:italic>SMARCB1<\/jats:italic> FISH revealed homozygous or heterozygous deletions in three and one case, respectively. The co\u2010hybridized <jats:italic>EWSR1<\/jats:italic> probes demonstrated either unbalanced split signals or heterozygous deletion in two cases each. The former suggested <jats:italic>bona fide<\/jats:italic> rearrangement, while the latter resembled an unbalanced translocation. However, all the FISH patterns were quite complex and distinct from the simple and uniform split signals seen in typical <jats:italic>EWSR1<\/jats:italic> rearrangements. We conclude that in the context of 22q11\u201012 regional alterations present in <jats:italic>SMARCB1<\/jats:italic>\u2010deleted tumors, simultaneous <jats:italic>EWSR1<\/jats:italic> involvement may be misinterpreted as equivalent to <jats:italic>EWSR1<\/jats:italic> rearrangement. A detailed clinicopathologic correlation and supplementing the <jats:italic>EWSR1<\/jats:italic> FISH assay with complementary methodology is mandatory for correct diagnosis. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/gcc.22376","type":"journal-article","created":{"date-parts":[[2016,5,24]],"date-time":"2016-05-24T20:36:08Z","timestamp":1464122168000},"page":"767-776","source":"Crossref","is-referenced-by-count":51,"title":["Secondary <i>EWSR1<\/i> gene abnormalities in <i>SMARCB1<\/i>\u2010deficient tumors with 22q11\u201012 regional deletions: Potential pitfalls in interpreting <i>EWSR1<\/i> FISH results"],"prefix":"10.1002","volume":"55","author":[{"given":"Shih\u2010Chiang","family":"Huang","sequence":"first","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center New York NY"},{"name":"Department of Pathology Chang Gung Memorial Hospital, Chang Gung University, College of Medicine  Taoyuan Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center New York NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun\u2010Shao","family":"Sung","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center New York NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun\u2010Liang","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center New York NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu\u2010Chien","family":"Kao","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center New York NY"},{"name":"Department of Pathology Shuang Ho Hospital, Taipei Medical University New Taipei City 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