Do mutations in SH3BP2 cause giant cell tumours

BackgroundCherubism, a condition in which giant cell tumours develop in the maxilla and mandible at the time of tooth eruption, is due to mutations in a 6AA area of exon 9 of SH3BP2 (c-Abl SH3 domain-binding protein 2), a member of the scaffold, anchoring and adaptor molecule family connecting receptor-activating signals to downstream effectors by assembling, targeting and regulating signal molecules. Whether this pathway is involved in development of other multinucleated giant cell lesions (including aneurysmal bone cysts, central giant cell granulomata and other giant cell tumours) is not known.ConclusionIn this cohort of tumour samples, mutations were not found in exon 9 of SH3BP2.