{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T19:24:37Z","timestamp":1791573877086,"version":"4.3.4"},"reference-count":32,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,9,12]],"date-time":"2020-09-12T00:00:00Z","timestamp":1599868800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100012524","name":"American Lebanese Syrian Associated Charities","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012524","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Histopathology"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:sec><jats:title>Aims<\/jats:title><jats:p>Several morphologically overlapping (myo)fibroblastic neoplasms harbour <jats:italic>USP6<\/jats:italic> fusions, including aneurysmal bone cysts, nodular fasciitis, myositis ossificans, cranial fasciitis, fibro\u2010osseous pseudotumour of the digits, and cellular fibroma of the tendon sheath. <jats:italic>USP6<\/jats:italic>\u2010induced neoplasms are almost universally benign and cured by local excision. We aim to highlight the diagnostic value of <jats:italic>USP6<\/jats:italic> fusion detection in a series of aggressive\u2010appearing paediatric myofibroblastic tumours.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and results<\/jats:title><jats:p>Three deep\u2010seated, radiographically aggressive, and rapidly growing childhood myofibroblastic neoplasms were morphologically and molecularly characterised by <jats:italic>USP6<\/jats:italic> break\u2010apart fluorescence <jats:italic>in\u2010situ<\/jats:italic> hybridisation (FISH), transcriptome sequencing, and targeted capture analysis. Each tumour occurred in the lower\u2010extremity deep soft tissue of a child presenting with pain, limping, or a mass. In all three patients, imaging studies showed a solid mass that infiltrated into surrounding skeletal muscle or involved\/eroded underlying bone. The biopsied tumours consisted of variably cellular myofibroblastic proliferations with variable mitotic activity that lacked overt malignant cytological features. FISH showed that all tumours had <jats:italic>USP6<\/jats:italic> rearrangements. On the basis of these results, all three patients were treated with conservative excision with positive margins. The excised tumours had foci resembling nodular fasciitis, fibromatosis, and pseudosarcomatous proliferation. Next\u2010generation sequencing revealed <jats:italic>COL1A1<\/jats:italic>\u2013<jats:italic>USP6<\/jats:italic> fusions in two tumours and a <jats:italic>COL3A1<\/jats:italic>\u2013<jats:italic>USP6<\/jats:italic> fusion in the third tumour. One tumour had a subclonal somatic <jats:italic>APC<\/jats:italic> in\u2010frame deletion. No recurrence was observed during follow\u2010up (8\u201340\u00a0months).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We present a series of benign, but aggressive\u2010appearing, <jats:italic>USP6<\/jats:italic>\u2010rearranged myofibroblastic tumours. These deep\u2010seated tumours had concerning clinical and radiographic presentations and did not fit into one distinct histological category. These cases highlight the diagnostic value of <jats:italic>USP6<\/jats:italic> fusion detection to identify benign nondescript tumours of this group, especially those with aggressive features, to avoid overtreatment.<\/jats:p><\/jats:sec>","DOI":"10.1111\/his.14182","type":"journal-article","created":{"date-parts":[[2020,6,25]],"date-time":"2020-06-25T02:25:23Z","timestamp":1593051923000},"page":"760-768","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Benign infiltrative myofibroblastic neoplasms of childhood with <i>USP6<\/i> gene rearrangement"],"prefix":"10.1111","volume":"77","author":[{"given":"Faizan","family":"Malik","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of Tennessee Health Science Center Memphis TN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pathology St Jude Children\u2019s Research Hospital Memphis TN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhongxin","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Oklahoma Health Science Center Oklahoma City OK USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morris C","family":"Edelman","sequence":"additional","affiliation":[{"name":"Department of Pathology Northwell Health New Hyde Park NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lili","family":"Miles","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Nemours Children\u2019s Hospital Orlando FL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael R","family":"Clay","sequence":"additional","affiliation":[{"name":"Department of Pathology St Jude Children\u2019s Research Hospital Memphis TN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dale","family":"Hedges","sequence":"additional","affiliation":[{"name":"Department of Pathology St Jude Children\u2019s Research Hospital Memphis TN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel C","family":"Brennan","sequence":"additional","affiliation":[{"name":"Department of Oncology St Jude Children\u2019s Research Hospital Memphis TN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim E","family":"Nichols","sequence":"additional","affiliation":[{"name":"Department of Oncology St Jude Children\u2019s Research Hospital Memphis TN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Beth McCarville","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging St Jude Children\u2019s Research Hospital Memphis TN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8515-2649","authenticated-orcid":false,"given":"Armita","family":"Bahrami","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of Tennessee Health Science Center Memphis TN USA"},{"name":"Department of Pathology St Jude Children\u2019s Research Hospital Memphis TN USA"},{"name":"Department of Oncology St Jude Children\u2019s Research Hospital Memphis TN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9,12]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)63432-3"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-03-2827"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.2011.118"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00256-007-0442-z"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anndiagpath.2018.01.006"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anndiagpath.2018.06.009"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12105-019-01018-0"},{"key":"e_1_2_8_9_1","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1038\/s41379-019-0422-6","article-title":"Recurrent and novel USP6 fusions in cranial fasciitis identified by targeted RNA sequencing","volume":"33","author":"Paulson VA","year":"2019","journal-title":"Mod. 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