{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T04:01:19Z","timestamp":1785211279225,"version":"3.55.0"},"reference-count":35,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,2,8]],"date-time":"2020-02-08T00:00:00Z","timestamp":1581120000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004329","name":"Javna Agencija za Raziskovalno Dejavnost RS","doi-asserted-by":"publisher","award":["P3\u20100054"],"award-info":[{"award-number":["P3\u20100054"]}],"id":[{"id":"10.13039\/501100004329","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":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Aneurysmal bone cyst (ABC) is a benign but locally aggressive neoplasm, with a tendency for local recurrence. In contrast to other bone tumors with secondary cystic change, ABC is characterized by <jats:italic>USP6<\/jats:italic> gene rearrangement. There is a growing list of known <jats:italic>USP6<\/jats:italic> fusion partners, characterization of which has been enabled with the advent of next\u2010generation sequencing (NGS). The list of known fusion partners includes <jats:italic>CDH11<\/jats:italic>, <jats:italic>CNBP<\/jats:italic>, <jats:italic>COL1A1<\/jats:italic>, <jats:italic>CTNNB1<\/jats:italic>, <jats:italic>EIF1<\/jats:italic>, <jats:italic>FOSL2<\/jats:italic>, <jats:italic>OMD<\/jats:italic>, <jats:italic>PAFAH1B1<\/jats:italic>, <jats:italic>RUNX2<\/jats:italic>, <jats:italic>SEC31A<\/jats:italic>, <jats:italic>SPARC<\/jats:italic>, <jats:italic>STAT3<\/jats:italic>, <jats:italic>THRAP3<\/jats:italic>, and <jats:italic>USP9X<\/jats:italic>. Using NGS, we analyzed a series of 11 consecutive ABCs and identified <jats:italic>USP6<\/jats:italic> fusions in all cases, providing further evidence that <jats:italic>USP6<\/jats:italic> fusions are universally present in primary ABCs. We identified four novel fusion partners in five ABCs and confirmed them by RT\u2010PCR and Sanger sequencing, <jats:italic>ASAP1<\/jats:italic>, <jats:italic>FAT1<\/jats:italic>, <jats:italic>SAR1A<\/jats:italic>, and <jats:italic>TNC<\/jats:italic> (in two cases). Because of high sensitivity and specificity, detection of a <jats:italic>USP6<\/jats:italic> fusion by NGS may assist in differentiating between ABC and its mimics, especially in small biopsy samples when a definite diagnosis cannot be achieved on morphological grounds alone. Further studies with a large number of cases and follow\u2010up are needed to determine whether different fusion partners are associated with specific clinical and pathologic features of ABCs.<\/jats:p>","DOI":"10.1002\/gcc.22836","type":"journal-article","created":{"date-parts":[[2020,2,3]],"date-time":"2020-02-03T11:03:23Z","timestamp":1580727803000},"page":"357-365","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["Novel <i>ASAP1\u2010USP6<\/i>, <i>FAT1\u2010USP6<\/i>, <i>SAR1A\u2010USP6<\/i>, and <i>TNC\u2010USP6<\/i> fusions in primary aneurysmal bone cyst"],"prefix":"10.1002","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6106-7493","authenticated-orcid":false,"given":"Daja","family":"\u0160ekoranja","sequence":"first","affiliation":[{"name":"Institute of Pathology, University of Ljubljana, Faculty of Medicine  Ljubljana 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