{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T10:59:23Z","timestamp":1789815563607,"version":"4.0.1"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,12,2]],"date-time":"2016-12-02T00:00:00Z","timestamp":1480636800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:p>Primary aneurysmal bone cyst (ABC) is a neoplastic process due to recurrent translocations involving the <jats:italic>USP6<\/jats:italic> gene. By fluorescence in situ hybridization, up to 69% of primary ABCs harbored <jats:italic>USP6<\/jats:italic> translocations; no <jats:italic>USP6<\/jats:italic> translocation was found in secondary ABC or giant cell tumor of bone (GCT). GCT can recur locally, metastasize to the lungs in some cases, and rarely undergo malignant transformation. Differentiating primary ABC from its mimics is important for treatment and prognosis. We evaluated <jats:italic>USP6<\/jats:italic> fusion and expression in 13 cases of primary and 1 case of secondary ABC, and 9 cases of GCT using nucleic acid extracted from formalin\u2010fixed, paraffin\u2010embedded tissue and a next generation sequencing (NGS)\u2010based assay. <jats:italic>USP6<\/jats:italic> fusions including 7 novel fusions and <jats:italic>USP6<\/jats:italic> transcripts were identified in all 13 primary ABCs. Nine cases with strong evidence of fusions showed high levels of <jats:italic>USP6<\/jats:italic> transcripts by reverse transcription\u2010PCR (RT\u2010PCR). The remaining four had no detectable <jats:italic>USP6<\/jats:italic> expression by a first\u2010round of RT\u2010PCR but the presence of <jats:italic>USP6<\/jats:italic> transcripts was identified by a second\u2010round, nested PCR. The major fusions were confirmed by RT\u2010PCR followed by Sanger sequencing. No <jats:italic>USP6<\/jats:italic> fusion or transcript was detected in any of the GCTs or the case of secondary ABC by NGS or by two rounds of PCR. All <jats:italic>USP6<\/jats:italic> translocations resulted in fusion of the entire <jats:italic>USP6<\/jats:italic> coding sequence with promoters of the fusion gene leading to upregulation of <jats:italic>USP6<\/jats:italic> transcription, which is likely the underlying mechanism for ABC oncogenesis. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/gcc.22432","type":"journal-article","created":{"date-parts":[[2016,12,2]],"date-time":"2016-12-02T09:09:09Z","timestamp":1480669749000},"page":"266-277","source":"Crossref","is-referenced-by-count":71,"title":["Anchored multiplex PCR for targeted next\u2010generation sequencing reveals recurrent and novel <i>USP6<\/i> fusions and upregulation of <i>USP6<\/i> expression in aneurysmal bone cyst"],"prefix":"10.1002","volume":"56","author":[{"given":"Natalya V.","family":"Guseva","sequence":"first","affiliation":[{"name":"Department of Pathology University of Iowa Hospitals and Clinics Iowa City IA 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