{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:46:27Z","timestamp":1786977987529,"version":"build-2736575974"},"reference-count":28,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2020,2,27]],"date-time":"2020-02-27T00:00:00Z","timestamp":1582761600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"},{"start":{"date-parts":[[2020,3,11]],"date-time":"2020-03-11T00:00:00Z","timestamp":1583884800000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["IG-2014 n.15707"],"award-info":[{"award-number":["IG-2014 n.15707"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Ministero dell'Istruzione, dell'Universit\u00e0 e della Ricerca","award":["PRIN 2015F3JHMB"],"award-info":[{"award-number":["PRIN 2015F3JHMB"]}]},{"DOI":"10.13039\/501100003852","name":"Regione Campania","doi-asserted-by":"publisher","award":["POR Satin"],"award-info":[{"award-number":["POR Satin"]}],"id":[{"id":"10.13039\/501100003852","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["IG\u20102014 n.15707"],"award-info":[{"award-number":["IG\u20102014 n.15707"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003852","name":"Regione Campania","doi-asserted-by":"publisher","award":["POR Satin"],"award-info":[{"award-number":["POR Satin"]}],"id":[{"id":"10.13039\/501100003852","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,12,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Neoplastic transformation is a rare but serious complication of Paget's disease of bone (PDB), occurring in fewer than 1% of individuals with polyostotic disease. Their prognosis is poor, with less than 50% surviving 5\u2009years. In 2016, the genetic alteration of giant cell tumor (GCT) complicating PDB was identified as a founder germline mutation (P937R) in the ZNF687 gene. However, the study population was exclusively of Italian descent, and patients of different ethnic origins were not studied. To fill this gap, herein we performed mutation analysis of ZNF687 in a GCT in the pelvis of a 45-year-old black American woman with polyostotic PDB. The P937R mutation in ZNF687 was found in her tumor but, as expected, the ancestral haplotype that characterizes the Italian GCT\/PDB patients was not found. Furthermore, we identified two additional Italian GCT\/PDB patients with this ZNF687 mutation, now constituting a cohort of 18 GCT\/PDB cases, all harboring the identical mutation. We also searched for ZNF687 mutations in a unique collection of tumor tissues derived from Italian PDB patients, including 28 osteosarcomas (OS\/PDB), 8 undifferentiated sarcomas (SRC\/PDB), 1 fibrosarcoma (FS\/PDB), and 1 chondrosarcoma (CS\/PDB). We identified the P937R mutation in one SRC\/PDB and a different ZNF687 mutation (R331W) in 1 of 28 pagetic osteosarcomas. Thus, whereas GCT\/PDB pathogenesis globally seems to involve the P937R mutation in ZNF687, other neoplasms associated with PDB seem to be less related to mutations in this gene. Finally, we identified the G34W mutation in the H3F3A gene in the maxillary tumor masses of two PDB patients, defining them as conventional GCT rather than GCT\/PDB. Thus, combined molecular analysis of H3F3A and ZNF687 is essential to clarify the origin and diagnosis of tumors in PDB. \u00a9 2020 American Society for Bone and Mineral Research.<\/jats:p>","DOI":"10.1002\/jbmr.3993","type":"journal-article","created":{"date-parts":[[2020,2,27]],"date-time":"2020-02-27T15:39:32Z","timestamp":1582817972000},"page":"1974-1980","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology"],"prefix":"10.1093","volume":"35","author":[{"given":"Federica","family":"Scotto di Carlo","sequence":"first","affiliation":[{"name":"Institute of Genetics and Biophysics National Research Council of Italy Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Pazzaglia","sequence":"additional","affiliation":[{"name":"Laboratory of Experimental Oncology IRCCS Istituto Ortopedico Rizzoli Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Mumm","sequence":"additional","affiliation":[{"name":"Center for Metabolic Bone Disease and Molecular Research Shriners Hospitals for Children-St. Louis St. Louis MO USA"},{"name":"Division of Bone and Mineral Diseases, Department of Internal Medicine Washington University School of Medicine at Barnes-Jewish Hospital St. Louis MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria S","family":"Benassi","sequence":"additional","affiliation":[{"name":"Laboratory of Experimental Oncology IRCCS Istituto Ortopedico Rizzoli Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annarosaria","family":"De Chiara","sequence":"additional","affiliation":[{"name":"Pathology Division Istituto Nazionale Tumori IRCCS, Fondazione G. Pascale Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Franchi","sequence":"additional","affiliation":[{"name":"Department of Translational Research and of New Technologies in Medicine and Surgery University of Pisa Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonina","family":"Parafioriti","sequence":"additional","affiliation":[{"name":"Department of Pathology Orthopaedic Institute Gaetano Pini Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Righi","sequence":"additional","affiliation":[{"name":"Department of Pathology IRCCS Istituto Ortopedico Rizzoli Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Esposito","sequence":"additional","affiliation":[{"name":"IRCCS INM Neuromed Pozzilli Italy"},{"name":"Institute of Genetics and Biophysics National Research Council of Italy Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8755-8490","authenticated-orcid":false,"given":"Michael P","family":"Whyte","sequence":"additional","affiliation":[{"name":"Center for Metabolic Bone Disease and Molecular Research Shriners Hospitals for Children-St. Louis St. Louis MO USA"},{"name":"Division of Bone and Mineral Diseases, Department of Internal Medicine Washington University School of Medicine at Barnes-Jewish Hospital St. Louis MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3812-2471","authenticated-orcid":false,"given":"Fernando","family":"Gianfrancesco","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Biophysics National Research Council of Italy Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,2,27]]},"reference":[{"key":"2024031419514261600_jbmr3993-bib-0001","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1056\/NEJMcp060278","article-title":"Clinical practice. Paget's disease of bone","volume":"355","author":"Whyte","year":"2006","journal-title":"N Engl J Med."},{"key":"2024031419514261600_jbmr3993-bib-0002","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1056\/NEJMcp1204713","article-title":"Clinical practice. Paget's disease of bone","volume":"368","author":"Ralston","year":"2013","journal-title":"N Engl J Med."},{"key":"2024031419514261600_jbmr3993-bib-0003","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1002\/jbmr.5650140203","article-title":"Cell biology of Paget's disease","volume":"14","author":"Reddy","year":"1999","journal-title":"J Bone Miner Res."},{"key":"2024031419514261600_jbmr3993-bib-0004","doi-asserted-by":"crossref","first-page":"85","DOI":"10.11005\/jbm.2014.21.2.85","article-title":"Pathobiology of Paget's disease of bone","volume":"21","author":"Galson","year":"2014","journal-title":"J Bone Metab."},{"key":"2024031419514261600_jbmr3993-bib-0005","doi-asserted-by":"crossref","first-page":"1582","DOI":"10.1086\/340731","article-title":"Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1\/p62) in Paget disease of bone","volume":"70","author":"Laurin","year":"2002","journal-title":"Am J Hum Genet."},{"key":"2024031419514261600_jbmr3993-bib-0006","doi-asserted-by":"crossref","first-page":"2735","DOI":"10.1093\/hmg\/11.22.2735","article-title":"Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease","volume":"11","author":"Hocking","year":"2002","journal-title":"Hum Mol Genet."},{"key":"2024031419514261600_jbmr3993-bib-0007","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.metabol.2017.06.010","article-title":"Paget's disease of bone","volume":"80","author":"Cundy","year":"2018","journal-title":"Metabolism."},{"key":"2024031419514261600_jbmr3993-bib-0008","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1093\/ajcp\/83.5.594","article-title":"Neoplasms arising in Paget's disease of bone: a study of 82 cases","volume":"83","author":"Haibach","year":"1985","journal-title":"Am J Clin Pathol."},{"key":"2024031419514261600_jbmr3993-bib-0009","first-page":"150","article-title":"Fourteen cases of sarcomatous degeneration in Paget's disease","volume":"26","author":"Jattiot","year":"1999","journal-title":"J Rheumatol."},{"issue":"Suppl 2","key":"2024031419514261600_jbmr3993-bib-0010","doi-asserted-by":"crossref","first-page":"P58","DOI":"10.1359\/jbmr.06s211","article-title":"Osteosarcoma in Paget's disease of bone","volume":"21","author":"Hansen","year":"2006","journal-title":"J Bone Miner Res."},{"key":"2024031419514261600_jbmr3993-bib-0011","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1002\/jbmr.2349","article-title":"Clinical characteristics and evolution of giant cell tumor occurring in Paget's disease of bone","volume":"30","author":"Rendina","year":"2015","journal-title":"J Bone Miner Res."},{"key":"2024031419514261600_jbmr3993-bib-0012","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.1038\/ng.2814","article-title":"Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone","volume":"45","author":"Behjati","year":"2013","journal-title":"Nat Genet."},{"key":"2024031419514261600_jbmr3993-bib-0013","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1126\/science.aac7272","article-title":"Histone H3K36 mutations promote sarcomagenesis through altered histone methylation landscape","volume":"352","author":"Lu","year":"2016","journal-title":"Science."},{"key":"2024031419514261600_jbmr3993-bib-0014","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1126\/science.aae0065","article-title":"The histone H3.3K36M mutation reprograms the epigenome of chondroblastomas","volume":"352","author":"Fang","year":"2016","journal-title":"Science."},{"key":"2024031419514261600_jbmr3993-bib-0015","doi-asserted-by":"crossref","first-page":"63121","DOI":"10.18632\/oncotarget.18670","article-title":"The distinct clinical features of giant cell tumor of bone in pagetic and non-pagetic patients are associated with genetic, biochemical and histological differences","volume":"8","author":"Divisato","year":"2017","journal-title":"Oncotarget"},{"key":"2024031419514261600_jbmr3993-bib-0016","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.ajhg.2015.12.016","article-title":"ZNF687 mutations in severe Paget disease of bone associated with giant cell tumor","volume":"98","author":"Divisato","year":"2016","journal-title":"Am J Hum Genet."},{"key":"2024031419514261600_jbmr3993-bib-0017","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.1111\/cge.13247","article-title":"ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone","volume":"93","author":"Divisato","year":"2018","journal-title":"Clin Genet."},{"key":"2024031419514261600_jbmr3993-bib-0018","first-page":"3826","article-title":"Extraskeletal osteoclastomas responsive to dexamethasone treatment in Paget bone disease","volume":"82","author":"Ziambaras","year":"1997","journal-title":"J Clin Endocrinol Metab."},{"key":"2024031419514261600_jbmr3993-bib-0019","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1101\/gad.252189.114","article-title":"Screen identifies bromodomain protein ZMYND8 in chromatin recognition of transcription-associated DNA damage that promotes homologous recombination","volume":"29","author":"Gong","year":"2015","journal-title":"Genes Dev."},{"key":"2024031419514261600_jbmr3993-bib-0020","doi-asserted-by":"crossref","first-page":"2724","DOI":"10.1016\/j.celrep.2016.11.014","article-title":"Multivalent histone and DNA engagement by a PHD\/BRD\/PWWP triple reader cassette recruits ZMYND8 to K14ac-rich chromatin","volume":"17","author":"Savitsky","year":"2016","journal-title":"Cell Rep."},{"key":"2024031419514261600_jbmr3993-bib-0021","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1016\/j.celrep.2016.09.037","article-title":"ZMYND8 co-localizes with NuRD on target genes and regulates poly(ADP-ribose)-dependent recruitment of GATAD2A\/NuRD to sites of DNA damage","volume":"17","author":"Spruijt","year":"2016","journal-title":"Cell Rep."},{"key":"2024031419514261600_jbmr3993-bib-0022","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1016\/j.cell.2011.05.006","article-title":"Analysis of the human endogenous coregulator complexome","volume":"145","author":"Malovannaya","year":"2011","journal-title":"Cell."},{"key":"2024031419514261600_jbmr3993-bib-0023","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/j.molcel.2012.10.026","article-title":"A map of general and specialized chromatin readers in mouse tissues generated by label-free interaction proteomics","volume":"49","author":"Eberl","year":"2013","journal-title":"Mol Cell."},{"key":"2024031419514261600_jbmr3993-bib-0024","doi-asserted-by":"crossref","first-page":"28956","DOI":"10.1074\/jbc.M114.573725","article-title":"Physical and functional interactions between the histone H3K4 demethylase KDM5A and the nucleosome remodeling and deacetylase (NuRD) complex","volume":"289","author":"Nishibuchi","year":"2014","journal-title":"J Biol Chem."},{"key":"2024031419514261600_jbmr3993-bib-0025","first-page":"30","article-title":"Aneurysmal bone cyst and other giant cell lesions of the jaws: report of 104 cases","volume":"17","author":"Bhaskar","year":"1959","journal-title":"J Oral Surg Anesth Hosp Dent Serv."},{"key":"2024031419514261600_jbmr3993-bib-0026","doi-asserted-by":"crossref","first-page":"106","DOI":"10.2106\/00004623-198769010-00018","article-title":"Giant-cell tumour of bone","volume":"69","author":"Campanacci","year":"1987","journal-title":"J Bone Joint Surg Am."},{"key":"2024031419514261600_jbmr3993-bib-0027","doi-asserted-by":"crossref","first-page":"1124","DOI":"10.1002\/1097-0142(19920901)70:5<1124::AID-CNCR2820700517>3.0.CO;2-P","article-title":"Giant cell tumor of the skull","volume":"70","author":"Bertoni","year":"1992","journal-title":"Cancer."},{"key":"2024031419514261600_jbmr3993-bib-0028","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1002\/cjp2.13","article-title":"Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics","volume":"1","author":"Presneau","year":"2015","journal-title":"J Pathol Clin Res."}],"container-title":["Journal of Bone and Mineral Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjbmr.3993","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jbmr.3993","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jbmr.3993","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/35\/10\/1974\/56974653\/jbmr3993.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/35\/10\/1974\/56974653\/jbmr3993.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,14]],"date-time":"2024-03-14T15:58:26Z","timestamp":1710431906000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jbmr\/article\/35\/10\/1974\/7516837"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2,27]]},"references-count":28,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2020,2,27]]},"published-print":{"date-parts":[[2020,12,1]]}},"URL":"https:\/\/doi.org\/10.1002\/jbmr.3993","relation":{},"ISSN":["0884-0431","1523-4681"],"issn-type":[{"value":"0884-0431","type":"print"},{"value":"1523-4681","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2020,12,1]]},"published":{"date-parts":[[2020,2,27]]},"assertion":[{"value":"2019-10-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-01-27","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}