{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T00:27:12Z","timestamp":1789691232733,"version":"4.0.1"},"reference-count":28,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T00:00:00Z","timestamp":1720483200000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008529","name":"Chiba University","doi-asserted-by":"publisher","award":["IFCU\u20102023\u201003"],"award-info":[{"award-number":["IFCU\u20102023\u201003"]}],"id":[{"id":"10.13039\/501100008529","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008732","name":"Uehara Memorial Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008732","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016289","name":"Taiju Life Social Welfare Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016289","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp;amp; Cancer"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>An aneurysmal bone cyst (ABC) is a benign bone neoplasm that typically occurs during the first and second decades of life. ABC usually presents as a rapidly growing intramedullary expansile mass with multiple blood\u2010filled cysts in the metaphysis of the long tubular bones. Here, we report a case of a periosteal solid ABC that was initially diagnosed as a high\u2010grade surface osteosarcoma. A 10\u2010year\u2010old male was referred to our hospital for swelling and tenderness of the left upper arm. Radiography revealed periosteal mass without fluid\u2013fluid levels. On performing open biopsy, the tumor showed hypercellular proliferation of uniform spindle to epithelioid cells with brisk mitotic activity (up to 12\/2\u2009mm<jats:sup>2<\/jats:sup>) and lace\u2010like osteoid formation, which was diagnosed as a high\u2010grade surface osteosarcoma. After one course of chemotherapy using adriamycin and cisplatin, peripheral sclerosis was conspicuous, which led to pathological review and revision of diagnosis as \u201cpossibly osteoblastoma.\u201d The patient was disease\u2010free for 4\u2009years after marginal resection and curettage. Retrospective nanopore DNA sequencing unexpectedly detected a <jats:italic>PAFAH1B1::USP6<\/jats:italic> rearrangement. The fusion gene was further validated using reverse transcription\u2010polymerase chain reaction and the diagnosis was revised to ABC. Chromothripsis involving chromosome 17 has also been identified. Methylation analysis classified the present tumor as an ABC or non\u2010ossifying fibroma using t\u2010distributed stochastic neighbor embedding and unsupervised hierarchical clustering. This case report highlights the utility of nanopore DNA sequencing for soft tissue and bone tumor diagnosis.<\/jats:p>","DOI":"10.1002\/gcc.23254","type":"journal-article","created":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T11:12:53Z","timestamp":1720523573000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Nanopore <scp>DNA<\/scp> Sequencing Detected Chromothripsis\u2010Induced <i>PAFAH1B1::USP6<\/i> Rearrangement in Periosteal Solid Aneurysmal Bone Cyst Initially Diagnosed as Osteosarcoma"],"prefix":"10.1002","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6991-747X","authenticated-orcid":false,"given":"Naohiro","family":"Makise","sequence":"first","affiliation":[{"name":"Division of Surgical Pathology Chiba Cancer Center  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason","family":"Lin","sequence":"additional","affiliation":[{"name":"Division of Cell Therapy Chiba Cancer Center  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hajime","family":"Kageyama","sequence":"additional","affiliation":[{"name":"Division of Surgical Pathology Chiba Cancer Center  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideyuki","family":"Kinoshita","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Chiba Cancer Center  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroto","family":"Kamoda","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Chiba Cancer Center  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Hagiwara","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Chiba Cancer Center  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariko","family":"Oikawa","sequence":"additional","affiliation":[{"name":"Division of Surgical Pathology Chiba Cancer Center  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahiro","family":"Sugiyama","sequence":"additional","affiliation":[{"name":"Division of Surgical Pathology Chiba Cancer Center  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidetada","family":"Kawana","sequence":"additional","affiliation":[{"name":"Division of Surgical Pathology Chiba Cancer Center  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akinobu","family":"Araki","sequence":"additional","affiliation":[{"name":"Division of Surgical Pathology Chiba Cancer Center  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsukasa","family":"Yonemoto","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Chiba Cancer Center  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahito","family":"Kawazu","sequence":"additional","affiliation":[{"name":"Division of Cell Therapy Chiba Cancer Center  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makiko","family":"Itami","sequence":"additional","affiliation":[{"name":"Division of Surgical Pathology Chiba Cancer Center  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,7,9]]},"reference":[{"key":"e_1_2_9_2_1","first-page":"437","volume-title":"World Health Organization (WHO) Classification of Soft Tissue and Bone Tumours","author":"Agaram N. P.","year":"2020"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.3928\/01477447\u201020160623\u201002"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00590\u2010020\u201002640\u20103"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00256\u2010022\u201004146\u2010x"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1177\/1066896920938878"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.14670\/HH\u201018\u2010532"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.3944\/aott.2013.2729"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22366"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc2201810"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-20603-4"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btab705"},{"key":"e_1_2_9_13_1","unstructured":"Oxford Nanopore Technologies \u201cReduced\u2010Representation Methylation Sequencing (RRMS) Captures 100% of CpG Islands and More \u201daccessed February 1 2024 https:\/\/nanoporetech.com\/sites\/default\/files\/s3\/posters\/lc2023\/Poster%20PDFs\/J2127_A1%20Poster_RRMS%20V3_Digital.pdf."},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.175141.114"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btz041"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/cjp2.337"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.28638"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2017.03.007"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00428\u2010020\u201002961\u2010y"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010018\u201004530\u2010z"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/cjp2.172"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.3115"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2927"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010020\u20101969\u20106"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1302736"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039\u2010023\u201000665\u2010x"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.3880224"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.3800090"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.21873\/cgp.20211"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.23254","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T16:55:23Z","timestamp":1722272123000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.23254"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7]]},"references-count":28,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["10.1002\/gcc.23254"],"URL":"https:\/\/doi.org\/10.1002\/gcc.23254","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7]]},"assertion":[{"value":"2024-05-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-18","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e23254"}}