{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T11:48:14Z","timestamp":1767008894111,"version":"3.48.0"},"reference-count":31,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T00:00:00Z","timestamp":1766448000000},"content-version":"vor","delay-in-days":22,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp;amp; Cancer"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Ubiquitin\u2010specific protease 6 (USP6)\u2010associated neoplasms constitute a spectrum of related entities that share clinical and morphological characteristics. They are defined molecularly by the presence of a\n                    <jats:italic>USP6<\/jats:italic>\n                    gene rearrangement that results in promoter swap fusions involving a range of partner genes that activate expression of full\u2010length\n                    <jats:italic>USP6<\/jats:italic>\n                    . In this study, we retrospectively reviewed whole transcriptome results and identified\n                    <jats:italic>USP6<\/jats:italic>\n                    \u2010associated neoplasms in the St. Jude clinical genomics cohort, with a focus on novel fusion partners. Three patients (ages 4\u201321\u2009years) presented with bone lesions affecting the humerus, femur, and distal femur, respectively. Histological examination revealed characteristic aneurysmal bone cyst (ABC) features including cystic spaces, osteoclastic giant cells with smooth muscle actin positivity in myofibroblastic cells, and at least one case with prominent myxoid features. Clinical whole transcriptome RNA sequencing identified three previously unreported\n                    <jats:italic>USP6<\/jats:italic>\n                    fusions including\n                    <jats:italic>SEC24D<\/jats:italic>\n                    ::\n                    <jats:italic>USP6<\/jats:italic>\n                    ,\n                    <jats:italic>HNRNPC<\/jats:italic>\n                    ::\n                    <jats:italic>USP6<\/jats:italic>\n                    , and\n                    <jats:italic>ERRFI1<\/jats:italic>\n                    ::\n                    <jats:italic>USP6<\/jats:italic>\n                    . All fusions resulted in transcriptional upregulation of\n                    <jats:italic>USP6<\/jats:italic>\n                    . In this report, we summarize the clinical, radiographic, and histologic presentations of these new cases and describe the associated fusion structures.\n                  <\/jats:p>","DOI":"10.1002\/gcc.70103","type":"journal-article","created":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T13:01:49Z","timestamp":1766494909000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and Pathologic Description of Three Aneurysmal Bone Cyst Cases With Novel\n                    <i>USP6<\/i>\n                    Fusion Partners Including\n                    <i>SEC24D<\/i>\n                    ,\n                    <i>HNRNPC<\/i>\n                    , and\n                    <i>ERRFI1<\/i>"],"prefix":"10.1002","volume":"64","author":[{"given":"Patrick R.","family":"Blackburn","sequence":"first","affiliation":[{"name":"Department of Pathology St. Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zonggao","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Pathology St. Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria F.","family":"Cardenas","sequence":"additional","affiliation":[{"name":"Department of Computational Biology St. Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark R.","family":"Wilkinson","sequence":"additional","affiliation":[{"name":"Department of Computational Biology St. Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert E.","family":"Ruiz","sequence":"additional","affiliation":[{"name":"Department of Pathology St. Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2838-3619","authenticated-orcid":false,"given":"Teresa","family":"Santiago","sequence":"additional","affiliation":[{"name":"Department of Pathology St. Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul H.","family":"Yi","sequence":"additional","affiliation":[{"name":"Department of Radiology St. Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad K.","family":"Eldomery","sequence":"additional","affiliation":[{"name":"Department of Pathology St. Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faizan","family":"Malik","sequence":"additional","affiliation":[{"name":"Department of Pathology St. Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,23]]},"reference":[{"issue":"3","key":"e_1_2_10_2_1","first-page":"247","article-title":"Histopathogenesis of Bone\u2010 and Soft\u2010Tissue Tumor Spectrum With USP6 Gene Rearrangement: Multiple Partners Involved in the Tissue Repair Process","volume":"38","author":"Legrand M.","year":"2023","journal-title":"Histology and Histopathology"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-022-05396-6"},{"issue":"4","key":"e_1_2_10_4_1","first-page":"257","article-title":"Case Report 729. 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