Cherubism is an autosomal-dominant inherited mutation in the SH3BP2 gene on chromosome 4p16.3. It is characterized by bilateral symmetric fibro-osseous lesions that are limited to the maxilla and mandible. The lesions present in early childhood and typically spontaneously involute after puberty. Current standard practice is to reserve surgery for symptomatic or severely disfiguring cases. This report presents 3 patients with cherubism who exhibited marked reduction in tumor size with imatinib, a tyrosine kinase inhibitor. Treatment was well tolerated, with few side effects.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.