{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T04:01:22Z","timestamp":1785211282798,"version":"3.55.0"},"reference-count":34,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,3,6]],"date-time":"2019-03-06T00:00:00Z","timestamp":1551830400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Primary aneurysmal bone cyst (ABC) is a benign multiloculated cystic lesion of bone that is defined cytogenetically by <jats:italic>USP6<\/jats:italic> gene rearrangements. Rearrangements involving <jats:italic>USP6<\/jats:italic> are promoter swaps, usually generated by fusion of the noncoding upstream exons of different partner genes with exon 1 or 2 of <jats:italic>USP6<\/jats:italic>, thus leading to transcriptional upregulation of full\u2010length <jats:italic>USP6<\/jats:italic> coding sequence. Testing for <jats:italic>USP6<\/jats:italic> rearrangements is used diagnostically to distinguish it from secondary ABC and other giant cell\u2010rich primary bone tumors. In this report, we present a case of a 16\u2010year\u2010old male with a primary ABC of the left distal femur. USP6 break apart fluorescence in situ hybridization was positive for a rearrangement and conventional chromosome analysis identified a reciprocal X;17 translocation. In order to identify the putative <jats:italic>USP6<\/jats:italic> fusion partner, we performed RNA sequencing and uncovered a novel <jats:italic>USP9X\u2010USP6<\/jats:italic> promoter swap fusion. This result was confirmed by reverse transcription\u2010polymerase chain reaction (RT\u2010PCR) and by mate pair sequencing thus showing the utility of these alternative methodologies in identifying novel fusion candidates. Ubiquitin\u2010specific protease 9X (<jats:italic>USP9X<\/jats:italic>), like <jats:italic>USP6<\/jats:italic>, encodes a highly conserved substrate\u2010specific deubiquitylating enzyme. USP9X is highly expressed in a number of tissue types and acts as both an oncogene and tumor suppressor in several human cancers. We conclude that oncogenic activation of <jats:italic>USP6<\/jats:italic> via <jats:italic>USP9X<\/jats:italic> promoter exchange represents a novel driver of primary ABC formation.<\/jats:p>","DOI":"10.1002\/gcc.22742","type":"journal-article","created":{"date-parts":[[2019,2,15]],"date-time":"2019-02-15T06:05:20Z","timestamp":1550210720000},"page":"589-594","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["RNA sequencing identifies a novel <i>USP9X\u2010USP6<\/i> promoter swap gene fusion in a primary aneurysmal bone cyst"],"prefix":"10.1002","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0658-1275","authenticated-orcid":false,"given":"Patrick R.","family":"Blackburn","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaime I.","family":"Davila","sequence":"additional","affiliation":[{"name":"Department of Health Science Research Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rory A.","family":"Jackson","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Numrah","family":"Fadra","sequence":"additional","affiliation":[{"name":"Department of Health Science Research Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mazen A.","family":"Atiq","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beth A.","family":"Pitel","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asha A.","family":"Nair","sequence":"additional","affiliation":[{"name":"Department of Health Science Research Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Todd J.","family":"VanDeWalker","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark G.","family":"Hessler","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara K.","family":"Hovel","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca N.","family":"Wehrs","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen J.","family":"Fritchie","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert B.","family":"Jenkins","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin C.","family":"Halling","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine B.","family":"Geiersbach","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,3,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2013.03.005"},{"key":"e_1_2_6_3_1","first-page":"176","article-title":"Aneurysmal bone cyst. A population based epidemiologic study and literature review","volume":"363","author":"Leithner A","year":"1999","journal-title":"Clin Orthop Relat Res"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/his.12275"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.otsr.2014.06.031"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.26926"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2264(199911)26:3<265::AID-GCC12>3.0.CO;2-#"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)63432-3"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1208506"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22432"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2018.07.001"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.2741\/s271"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.2011.118"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2016.83"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anndiagpath.2018.05.003"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anndiagpath.2018.01.006"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2017.78"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20140496"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2010.116"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2011.520"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1605691113"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-15-224"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2018.03.007"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2013-14-4-r36"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2011-12-8-r72"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12864-016-3161-9"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2017.11.009"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu078"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.5"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2017.03.007"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M112.430066"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2008.10.051"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-015-1851-0"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.12.015"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-16-3563"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgcc.22742","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.22742","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/gcc.22742","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.22742","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T14:47:39Z","timestamp":1694357259000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.22742"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,6]]},"references-count":34,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2019,8]]}},"alternative-id":["10.1002\/gcc.22742"],"URL":"https:\/\/doi.org\/10.1002\/gcc.22742","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,3,6]]},"assertion":[{"value":"2019-01-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-02-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-03-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}