{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T18:17:58Z","timestamp":1790792278352,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,10,18]],"date-time":"2019-10-18T00:00:00Z","timestamp":1571356800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["P50 CA140146\u201001"],"award-info":[{"award-number":["P50 CA140146\u201001"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["P30\u2010CA008748"],"award-info":[{"award-number":["P30\u2010CA008748"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes & Cancer"],"published-print":{"date-parts":[[2020,3]]},"abstract":"Abstract<\/jats:title>\n \n Synovial chondromatosis (SC) is a rare benign cartilaginous neoplasm in which recurrent fibronectin 1 (\n FN1<\/jats:italic>\n ) and activin receptor 2A (\n ACVR2A<\/jats:italic>\n ) gene rearrangements have been recently reported. Triggered by a case of malignant transformation in SC (synovial chondrosarcoma) showing a novel\n KMT2A<\/jats:italic>\n \u2010\n BCOR<\/jats:italic>\n gene fusion by targeted RNA sequencing, we sought to evaluate the molecular abnormalities in a cohort of 27 SC cases using a combined methodology of fluorescence in situ hybridization (FISH) and\/or targeted RNA sequencing. Results showed that\n FN1<\/jats:italic>\n and \/or\n ACVR2A<\/jats:italic>\n gene rearrangements were noted in 18 cases (67%), with an\n FN1\u2010ACVR2A<\/jats:italic>\n fusion being confirmed in 15 (56%) cases. Two cases showed only\n FN1<\/jats:italic>\n gene rearrangement, without other abnormalities. A novel\n FN1\u2010NFATc2<\/jats:italic>\n gene fusion was noted in one case by RNA sequencing. The remaining nine cases showed no abnormalities in\n FN1<\/jats:italic>\n and\n ACVR2A<\/jats:italic>\n genes. No additional cases showed\n BCOR<\/jats:italic>\n gene alterations. In conclusion, this study confirms that\n FN1<\/jats:italic>\n \u2010\n ACVR2A<\/jats:italic>\n fusion is the leading pathogenetic event in SC, at even higher frequency than previously reported. FISH methodology emerges as an appropriate tool in the identification of\n FN1<\/jats:italic>\n and\n ACVR2A<\/jats:italic>\n gene abnormalities, which can be used in challenging cases. Further studies are needed to determine the recurrent potential of\n BCOR<\/jats:italic>\n abnormalities in this disease.\n <\/jats:p>","DOI":"10.1002\/gcc.22812","type":"journal-article","created":{"date-parts":[[2019,10,7]],"date-time":"2019-10-07T12:49:56Z","timestamp":1570452596000},"page":"144-151","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":55,"title":["A molecular study of synovial chondromatosis"],"prefix":"10.1002","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6991-2310","authenticated-orcid":false,"given":"Narasimhan P.","family":"Agaram","sequence":"first","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2269-6216","authenticated-orcid":false,"given":"Brendan C.","family":"Dickson","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Mount Sinai Hospital Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Swanson","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Mount Sinai Hospital Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun\u2010Shao","family":"Sung","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David M.","family":"Panicek","sequence":"additional","affiliation":[{"name":"Department of Radiology Memorial Sloan Kettering Cancer Center New York New 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