{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T11:01:40Z","timestamp":1780138900761,"version":"3.54.0"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T00:00:00Z","timestamp":1780099200000},"content-version":"vor","delay-in-days":149,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Pathology"],"published-print":{"date-parts":[[2026,1]]},"abstract":"\n Background<\/jats:title>\n \n Osteogenesis imperfecta (OI) is a group of skeletal dysplasias characterized by recurrent fractures and fragile bones. Two pathogenic variants in the\n IFITM5<\/jats:italic>\n gene cause distinct forms of OI: The recurrent c.\u201314C>T variant causes OI type V (MIM #610967), characterized by hyperplastic callus formation and interosseous membrane ossification, while the rare c.119C>T (p.Ser40Leu) variant causes a phenotypically distinct, severe form of\n IFITM5<\/jats:italic>\n \u2010related OI without these hallmark features. Radiographically, OI\u2010related skeletal lesions may resemble malignant bone tumors such as osteosarcoma, leading to diagnostic challenges. Although the co\u2010occurrence of OI and osteosarcoma has been reported, with approximately nine documented cases, all involved other OI subtypes. No case of true osteosarcoma arising in a patient with genetically confirmed\n IFITM5<\/jats:italic>\n \u2010related OI has been previously described. We present this case to highlight the novelty of this association, improve recognition of the distinguishing features, and prevent future misdiagnosis.\n <\/jats:p>\n <\/jats:sec>\n \n Case Presentation<\/jats:title>\n \n A 23\u2010year\u2010old female with\n IFITM5<\/jats:italic>\n \u2010related OI, confirmed by molecular testing showing heterozygosity for a pathogenic\n IFITM5<\/jats:italic>\n mutation (c.119C>T, p.Ser40Leu; parental testing to determine inheritance was not performed) presented to our Comprehensive Cancer Center in May 2025 with localized groin pain, later diagnosed as a nondisplaced pelvic fracture. Although initial clinical and radiographic findings were consistent with the patient\u2032s underlying OI, further evaluation revealed features concerning for concomitant osteosarcoma. The patient was treated with the MISER chemotherapy protocol with subsequent surgical resection.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n Distinguishing OI\u2010related skeletal changes from malignant bone tumors requires integration of clinical history, genetic testing, and careful pathologic evaluation via a multidisciplinary approach. While prior reports of concomitant osteosarcoma and OI have involved other subtypes, this case represents the first documented true co\u2010occurrence in a patient with\n IFITM5<\/jats:italic>\n \u2010related OI and underscores the importance of recognizing the overlapping and divergent features of these conditions when rendering a diagnosis and initiating treatment protocols.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1155\/crip\/3377588","type":"journal-article","created":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T10:22:36Z","timestamp":1780136556000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Osteosarcoma in the Setting of Genetically Confirmed\n IFITM5-<\/i>\n Related Osteogenesis Imperfecta"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-8069-4545","authenticated-orcid":false,"given":"Ava","family":"McKane","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3679-0473","authenticated-orcid":false,"given":"Morgan","family":"Noel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-0912-7438","authenticated-orcid":false,"given":"Andrew","family":"Hiatt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5121-897X","authenticated-orcid":false,"given":"Cynthia","family":"Emory","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,30]]},"reference":[{"key":"e_1_2_9_1_2","volume-title":"Fast Facts on Osteogenesis Imperfecta","author":"Osteogenesis Imperfecta Foundation","year":"2022"},{"key":"e_1_2_9_2_2","volume-title":"Nosology (Classifications) of Osteogenesis Imperfecta","author":"Osteogenesis Imperfecta Foundation","year":"2026"},{"key":"e_1_2_9_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(15)00728-X"},{"key":"e_1_2_9_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.1891"},{"key":"e_1_2_9_5_2","doi-asserted-by":"publisher","DOI":"10.2147\/ORR.S385146"},{"key":"e_1_2_9_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2363"},{"key":"e_1_2_9_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2156"},{"key":"e_1_2_9_8_2","volume-title":"Osteosarcoma: Osteosarcoma Information","author":"American Cancer Society","year":"2025"},{"key":"e_1_2_9_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00264-001-0323-3"},{"key":"e_1_2_9_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00974002"},{"key":"e_1_2_9_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00428-004-0985-5"},{"key":"e_1_2_9_12_2","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2019.00375"},{"key":"e_1_2_9_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-021-00932-2"},{"key":"e_1_2_9_14_2","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2021.622674"},{"key":"e_1_2_9_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2005.07.020"},{"key":"e_1_2_9_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(10)70062-0"}],"container-title":["Case Reports in Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crip\/3377588","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crip\/3377588","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crip\/3377588","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T10:22:38Z","timestamp":1780136558000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crip\/3377588"}},"subtitle":[],"editor":[{"given":"Suraiya","family":"Saleem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crip\/3377588"],"URL":"https:\/\/doi.org\/10.1155\/crip\/3377588","archive":["Portico"],"relation":{},"ISSN":["2090-6781","2090-679X"],"issn-type":[{"value":"2090-6781","type":"print"},{"value":"2090-679X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2026-02-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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