title: Mutations in SH3BP2, the cherubism gene, were not detected in central or peripheral giant cell tumours of the jaw.
abstract: Giant cell granulomas of the jaw (GCGJ) are non-familial, generally unilateral osteoclast-rich lesions that are histopathologically indistinguishable from cherubism. Cherubism is an autosomal dominant disease that is characterised by bilateral radiolucencies of the jaw, and caused by mutations that occur in SH3BP2 exon 10. The aim of the study was to screen lesional GCGJ tissue for SH3BP2 mutations. Lesional mononuclear stromal or spindle cells were microdissected from paraffin-embedded tissue from GCGJ, and DNA was then extracted and sequenced for SH3BP2 mutations associated with cherubism. No mutations were detected in 26 GCGJ (15 central, 11 peripheral), which indicated that people with GCGJ do not harbour cherubism-related germline SH3BP2 mutations, and that GCGJ do not harbour somatic SH3BP2 mutations. This suggests that cherubism and GCGJ arise on a different genetic background, and therefore detection of SH3BP2 mutations can be a useful means of distinguishing between them.
authors.affiliation: Institute of Orthopaedics and Musculoskeletal Science, University College London, Stanmore, Middlesex, UK; Histopathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, UK.
authors.forename: Bernadine D
authors.initials: BD
authors.lastname: Idowu
authors.affiliation: Department of Histopathology, University College Hospital, London, UK; Tumour Biology Laboratory, Cancer Research UK Clinical Centre, Barts and the London Queen Mary's University, UK.
authors.forename: Garreth
authors.initials: G
authors.lastname: Thomas
authors.affiliation: Department of Histopathology, University College Hospital, London, UK.
authors.forename: Richard
authors.initials: R
authors.lastname: Frow
authors.affiliation: Histopathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, UK.
authors.forename: Timothy C
authors.initials: TC
authors.lastname: Diss
authors.affiliation: Institute of Orthopaedics and Musculoskeletal Science, University College London, Stanmore, Middlesex, UK; Histopathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, UK; Department of Histopathology, University College Hospital, London, UK; Tumour Biology Laboratory, Cancer Research UK Clinical Centre, Barts and the London Queen Mary's University, UK. Electronic address: a.flanagan@ucl.ac.uk.
authors.forename: Adrienne M
authors.initials: AM
authors.lastname: Flanagan
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000032:analysis / Q000235:genetics*; D000328:Adult; D000368:Aged; D002636:Cherubism / Q000235:genetics*; D005260:Female; D006101:Granuloma, Giant Cell / Q000145:classification / Q000235:genetics*; D006801:Humans; D007571:Jaw Diseases / Q000145:classification / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics; D011859:Radiography
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C109073:SH3BP2 protein, human