title: Intraosseous schwannoma in schwannomatosis.
abstract: This study investigates the clinical, radiological, and pathological features of two cases of intraosseous schwannoma that arose in patients with multiple soft tissue schwannomas. In both cases, the patients were adult females and the tibial bone was affected. Vestibular schwannomas were not identified, indicating that these were not cases of neurofibromatosis 2 (NF2). Radiographs showed a well-defined lytic lesion in the proximal tibia; in one case, this was associated with a pathological fracture. Histologically, both cases showed typical features of benign schwannoma. Molecular analysis of one of the excised tumors showed different alterations in the NF2 gene in keeping with a diagnosis of schwannomatosis. Our findings show for the first time that intraosseous schwannomas can occur in schwannomatosis.
authors.affiliation: Department of Pathology, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Nuffield Orthopaedic Centre, Oxford, OX3 7HE, UK.
authors.forename: T G
authors.initials: TG
authors.lastname: Kashima
authors.forename: M R J P
authors.initials: MR
authors.lastname: Gibbons
authors.forename: D
authors.initials: D
authors.lastname: Whitwell
authors.forename: C L M H
authors.initials: CL
authors.lastname: Gibbons
authors.forename: K M
authors.initials: KM
authors.lastname: Bradley
authors.forename: S J
authors.initials: SJ
authors.lastname: Ostlere
authors.forename: N A
authors.initials: NA
authors.lastname: Athanasou
mesh_terms: D001859:Bone Neoplasms / Q000000981:diagnostic imaging* / Q000209:etiology / Q000473:pathology / Q000601:surgery; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008875:Middle Aged; D009442:Neurilemmoma / Q000150:complications / Q000000981:diagnostic imaging* / Q000209:etiology / Q000473:pathology / Q000601:surgery; D017253:Neurofibromatoses / Q000150:complications / Q000000981:diagnostic imaging* / Q000473:pathology / Q000601:surgery; D011859:Radiography; D012878:Skin Neoplasms / Q000150:complications / Q000000981:diagnostic imaging* / Q000473:pathology / Q000601:surgery; D013977:Tibia / Q000000981:diagnostic imaging* / Q000473:pathology / Q000601:surgery; D016896:Treatment Outcome