{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T15:43:10Z","timestamp":1766504590976,"version":"3.40.5"},"reference-count":18,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2021,8,22]],"date-time":"2021-08-22T00:00:00Z","timestamp":1629590400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["P30CA15083"],"award-info":[{"award-number":["P30CA15083"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Aneurysmal bone cyst is a benign bone neoplasm that most commonly arises from the metaphyses of long bones in the first and second decades of life. Here, we describe a case of an aneurysmal bone cyst that occurred in the distal tibial diaphysis of a 72\u2010year\u2010old female that was concerning for malignancy on imaging, demonstrating cortical breakthrough and soft tissue extension. Histologically, the tumor showed the characteristic morphologic features of aneurysmal bone cyst. Fluorescence in situ hybridization was positive for <jats:italic>USP6<\/jats:italic> rearrangement, and RNA sequencing revealed a <jats:italic>USP6<\/jats:italic> gene fusion with <jats:italic>VDR<\/jats:italic>, a novel partner that encodes the vitamin D receptor and that has not been implicated previously in human neoplasia. This case highlights the diagnostic challenges presented by aneurysmal bone cyst in elderly adults, and it expands the genetic spectrum of <jats:italic>USP6<\/jats:italic> rearrangements.<\/jats:p>","DOI":"10.1002\/gcc.22989","type":"journal-article","created":{"date-parts":[[2021,8,9]],"date-time":"2021-08-09T04:40:51Z","timestamp":1628484051000},"page":"833-836","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Aneurysmal bone cyst with an unusual clinical presentation and a novel <scp><i>VDR<\/i>\u2010<i>USP6<\/i><\/scp> fusion"],"prefix":"10.1002","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7746-3546","authenticated-orcid":false,"suffix":"Jr","given":"David J.","family":"Papke","sequence":"first","affiliation":[{"name":"Department of Pathology Brigham and Women's Hospital, and Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam A.","family":"Bredella","sequence":"additional","affiliation":[{"name":"Department of Radiology Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Santiago","family":"Lozano\u2010Calderon","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andre M.","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jochen","family":"Lennerz","sequence":"additional","affiliation":[{"name":"Department of Pathology Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. Petur","family":"Nielsen","sequence":"additional","affiliation":[{"name":"Department of Pathology Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,8,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archsurg.1942.01210240043003"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19920615)69:12<2921::AID-CNCR2820691210>3.0.CO;2-E"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-03-2827"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-200201000-00007"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41379-020-0513-4"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000000859"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00428-021-03149-8"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.2011.118"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/his.14268"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2017.78"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)63432-3"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.24.22.9752-9762.2004"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.23.6.2151-2161.2003"},{"issue":"21","key":"e_1_2_6_15_1","first-page":"4750","article-title":"TRE17\/USP6 regulates ubiquitylation and trafficking of cargo proteins that enter cells by clathrin\u2010independent endocytosis","volume":"127","author":"Funakoshi Y","year":"2014","journal-title":"J Cell Sci"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2010.116"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1210\/endo.140.2.6673"},{"issue":"11","key":"e_1_2_6_18_1","first-page":"1","article-title":"The vitamin D receptor in osteoblast\u2010lineage cells is essential for the proresorptive activity of 1\u03b1,25(OH)2D3 in vivo","volume":"161","author":"Mori T","year":"2020","journal-title":"Endocrinology (United States)"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1210\/mend.11.8.9951"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.22989","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/gcc.22989","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.22989","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T11:27:05Z","timestamp":1693222025000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.22989"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,22]]},"references-count":18,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["10.1002\/gcc.22989"],"URL":"https:\/\/doi.org\/10.1002\/gcc.22989","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"type":"print","value":"1045-2257"},{"type":"electronic","value":"1098-2264"}],"subject":[],"published":{"date-parts":[[2021,8,22]]},"assertion":[{"value":"2021-05-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}