{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T00:33:40Z","timestamp":1775176420491,"version":"3.50.1"},"reference-count":43,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,1,5]],"date-time":"2022-01-05T00:00:00Z","timestamp":1641340800000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81671006"],"award-info":[{"award-number":["81671006"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81700994"],"award-info":[{"award-number":["81700994"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Malignant transformation of fibrous dysplasia (FD) is very rare and little is known about this occurrence.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We present the detailed clinical course of three cases of osteosarcoma arising from FD of the jaws and explore the genetic aberrations by Sanger sequencing, whole\u2010exome sequencing (WES) and immunohistochemistry (IHC). A literature review of important topics related to this occurrence was also performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>It was observed that patients with secondary sarcoma from FD showed a wide range of ages, with most during the third decade. Female and males were equally affected. Craniofacial bones and femurs were the most affected sites. High\u2010risk factors for this occurrence included polyostotic FD, McCune\u2010Albright syndrome and excess growth hormone. Notably, a potential relationship between thyroid hormones and sarcoma development was suggested in one patient, who began to show malignant features after hypothyroidism correction. Sanger sequencing revealed <jats:italic>GNAS<\/jats:italic> mutations of FD retained in all malignant tissues. Additionally, abnormal <jats:italic>TP53<\/jats:italic> was demonstrated in all three cases by WES and IHC. WES also revealed two other driver mutations, <jats:italic>ROS1<\/jats:italic> and <jats:italic>CHD8<\/jats:italic>, and large amounts of somatic copy number alterations (CNAs) where various oncogenes and tumour suppressors are located.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study demonstrated and reviewed the clinical features and risk factors for a rare occurrence, secondary sarcoma from FD, and provided important new knowledge about its genetics.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1861","type":"journal-article","created":{"date-parts":[[2022,1,6]],"date-time":"2022-01-06T06:26:13Z","timestamp":1641450373000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8178-5254","authenticated-orcid":false,"given":"Ruirui","family":"Shi","sequence":"first","affiliation":[{"name":"Central Laboratory Peking University School and Hospital of Stomatology &amp; National Center of Stomatology &amp; National Clinical Research Center for Oral Diseases &amp; National Engineering Laboratory for Digital and Material Technology of Stomatology &amp; Beijing Key Laboratory of Digital Stomatology &amp; Research Center of Engineering and Technology for Computerized Dentistry Ministry of Health &amp; NMPA Key Laboratory for Dental Materials Beijing PR China"},{"name":"Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial Regions Chinese Academy of Medical Sciences (2019RU034) Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuefen","family":"Li","sequence":"additional","affiliation":[{"name":"Central Laboratory Peking University School and Hospital of Stomatology &amp; National Center of Stomatology &amp; National Clinical Research Center for Oral Diseases &amp; National Engineering Laboratory for Digital and Material Technology of Stomatology &amp; Beijing Key Laboratory of Digital Stomatology &amp; Research Center of Engineering and Technology for Computerized Dentistry Ministry of Health &amp; NMPA Key Laboratory for Dental Materials Beijing PR China"},{"name":"Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial Regions Chinese Academy of Medical Sciences (2019RU034) Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianyun","family":"Zhang","sequence":"additional","affiliation":[{"name":"Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial Regions Chinese Academy of Medical Sciences (2019RU034) Beijing China"},{"name":"Department of Oral Pathology Peking University School and Hospital of Stomatology &amp; National Center of Stomatology &amp; National Clinical Research Center for Oral Diseases &amp; National Engineering Laboratory for Digital and Material Technology of Stomatology &amp; Beijing Key Laboratory of Digital Stomatology &amp; Research Center of Engineering and Technology for Computerized Dentistry Ministry of Health &amp; NMPA Key Laboratory for Dental Materials Beijing PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feng","family":"Chen","sequence":"additional","affiliation":[{"name":"Central Laboratory Peking University School and Hospital of Stomatology &amp; National Center of Stomatology &amp; National Clinical Research Center for Oral Diseases &amp; National Engineering Laboratory for Digital and Material Technology of Stomatology &amp; Beijing Key Laboratory of Digital Stomatology &amp; Research Center of Engineering and Technology for Computerized Dentistry Ministry of Health &amp; NMPA Key Laboratory for Dental Materials Beijing PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming","family":"Ma","sequence":"additional","affiliation":[{"name":"Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial Regions Chinese Academy of Medical Sciences (2019RU034) Beijing China"},{"name":"Department of Oral Pathology Peking University School and Hospital of Stomatology &amp; National Center of Stomatology &amp; National Clinical Research Center for Oral Diseases &amp; National Engineering Laboratory for Digital and Material Technology of Stomatology &amp; Beijing Key Laboratory of Digital Stomatology &amp; Research Center of Engineering and Technology for Computerized Dentistry Ministry of Health &amp; NMPA Key Laboratory for Dental Materials Beijing PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanrui","family":"Feng","sequence":"additional","affiliation":[{"name":"Central Laboratory Peking University School and Hospital of Stomatology &amp; National Center of Stomatology &amp; National Clinical Research Center for Oral Diseases &amp; National Engineering Laboratory for Digital and Material Technology of Stomatology &amp; Beijing Key Laboratory of Digital Stomatology &amp; Research Center of Engineering and Technology for Computerized Dentistry Ministry of Health &amp; NMPA Key Laboratory for Dental Materials Beijing PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiejun","family":"Li","sequence":"additional","affiliation":[{"name":"Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial Regions Chinese Academy of Medical Sciences (2019RU034) Beijing China"},{"name":"Department of Oral Pathology Peking University School and Hospital of Stomatology &amp; National Center of Stomatology &amp; National Clinical Research Center for Oral Diseases &amp; National Engineering Laboratory for Digital and Material Technology of Stomatology &amp; Beijing Key Laboratory of Digital Stomatology &amp; Research Center of Engineering and Technology for Computerized Dentistry Ministry of Health &amp; NMPA Key Laboratory for Dental Materials Beijing PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,1,5]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.critrevonc.2020.103126"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btr670"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/endrev\/bnz011"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20107\u201080"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.2514"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000658\u2010194506000\u201000012"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20107\u2010S1\u2010S4"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu314"},{"issue":"5","key":"e_1_2_10_10_1","first-page":"4451","article-title":"Two cases of secondary angiosarcoma arising from fibrous dysplasia","volume":"19","author":"Fukuroku J.","year":"1999","journal-title":"Anticancer Research"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00223\u2010020\u201000780\u20106"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1302\/0301\u2010620X.96B5.33281"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.3892\/ol.2014.2082"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.03.018"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2003.08.004"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2009.05.018"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.080609"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/340692a0"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10143\u2010019\u201001089\u20101"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1001\/archsurg.1938.01190230153012"},{"key":"e_1_2_10_22_1","first-page":"777","article-title":"Fibrous dysplsia of bone. 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