{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T02:40:03Z","timestamp":1793155203199,"version":"4.5.0"},"reference-count":35,"publisher":"BMJ","issue":"6","license":[{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Project of the Ministry of Health of the Czech Republic","award":["00064203"],"award-info":[{"award-number":["00064203"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2024,2,19]]},"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:sec>\n                  <jats:title>Aims<\/jats:title>\n                  <jats:p>The purpose of this study is to report novel and unusual <jats:italic>USP6<\/jats:italic> fusion partners in aneurysmal bone cysts (ABCs). These findings may be useful in routine diagnostics as well as in studying the biology of <jats:italic>USP6<\/jats:italic>-related disorders.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>A cohort of seven patients diagnosed with ABC examined between 2014 and 2023 at Motol University Hospital in Prague was included into this retrospective non-randomised study. All cases were analysed using histopathological evaluation, immunohistochemistry and Anchored multiplex RNA methods. Demographic characteristics and clinical data were also analysed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We identified two novel (<jats:italic>ZFX<\/jats:italic> and <jats:italic>IP6K2<\/jats:italic>), three unusual (<jats:italic>MEF2A, EIF1<\/jats:italic> and <jats:italic>COL1A2<\/jats:italic>) and two common (<jats:italic>CDH11<\/jats:italic>) fusion partners with <jats:italic>USP6<\/jats:italic> gene among all seven cases of ABC.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Cases in our study were diagnosed as ABCs due to characteristic clinical and morphological presentation. However, not all cases are as self-evident, and molecular testing is necessary. The identification of these gene alterations can be useful in distinction between true ABC and ABC-like changes among many benign and malignant bone tumours.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jcp-2023-209306","type":"journal-article","created":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T13:20:44Z","timestamp":1709299244000},"page":"399-403","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":7,"title":["Novel and unusual <i>USP6<\/i> fusion partners in aneurysmal bone cyst and their role in pathogenesis and histopathological evaluation of this disease"],"prefix":"10.1136","volume":"78","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0451-2786","authenticated-orcid":false,"given":"Jan","family":"Balko","sequence":"first","affiliation":[{"name":"Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Golas","sequence":"additional","affiliation":[{"name":"Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludvik","family":"Kaspar","sequence":"additional","affiliation":[{"name":"Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6113-6310","authenticated-orcid":false,"given":"Lenka","family":"Krskova","sequence":"additional","affiliation":[{"name":"Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Strnadova","sequence":"additional","affiliation":[{"name":"Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johana","family":"Kotis","sequence":"additional","affiliation":[{"name":"Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8697-9632","authenticated-orcid":false,"given":"Josef","family":"Zamecnik","sequence":"additional","affiliation":[{"name":"Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,3,1]]},"reference":[{"key":"2025092501460888000_78.6.399.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.prp.2022.153777"},{"key":"2025092501460888000_78.6.399.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.path.2018.06.004"},{"key":"2025092501460888000_78.6.399.3","doi-asserted-by":"publisher","DOI":"10.1111\/his.14845"},{"key":"2025092501460888000_78.6.399.4","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)63432-3"},{"key":"2025092501460888000_78.6.399.5","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22432"},{"key":"2025092501460888000_78.6.399.6","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22742"},{"key":"2025092501460888000_78.6.399.7","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22836"},{"key":"2025092501460888000_78.6.399.8","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1208506"},{"key":"2025092501460888000_78.6.399.9","doi-asserted-by":"publisher","DOI":"10.1177\/1066896920938878"},{"key":"2025092501460888000_78.6.399.10","doi-asserted-by":"publisher","DOI":"10.1136\/jcp-2023-208768"},{"key":"2025092501460888000_78.6.399.11","doi-asserted-by":"publisher","DOI":"10.14670\/HH-18-532"},{"key":"2025092501460888000_78.6.399.12","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2013.03.005"},{"key":"2025092501460888000_78.6.399.13","doi-asserted-by":"publisher","DOI":"10.1016\/j.radcr.2022.02.037"},{"key":"2025092501460888000_78.6.399.14","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1302\/0301-620X.67B2.3980546","article-title":"Spontaneous healing of aneurysmal bone cysts. 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