Cherubism misdiagnosed as giant cell tumor: a case report and review of literature.

Cherubism is characterized by progressive, painless, bilateral enlargement of the mandible and/or maxilla resulting from the replacement of bone with multilocular cysts composed of fibrotic stromal cells and osteoclast-like cells. Here we report one Chinese cherubism case that has been misdiagnosed for more than forty years. The patient displayed no typical clinical or radiographical signs of cherubism due to multi-surgical treatments. Her histopathologic examination revealed the proliferating fibrous connective tissue with few multinucleated giant cells. The family history suggested us to perform sequence analysis of the SH3BP2 gene, a candidate marker for cherubism, in the family, and it was found that both the proband and the son had a missense mutation in SH3BP2 in exon 9 (p. Arg415Gln). Here we emphasize the importance of gene testing in the diagnosis of suspected cherubism, especially for those cases with non-typical clinical, radiographic and histological presentations.