Search

Cherubism is a skeletal dysplasia limited to the maxilla and mandible, affecting children and adolescents. A 13-year-old male patient was referred to the Oxford University Hospitals Oral and Maxillofacial Surgery Department, by his orthodontist, following an incidental finding of bilateral multilocular radiolucencies of the mandible. This led to multiple clinical, radiographic, histopathological, genetic and biochemical investigations involving various medical and dental specialities. The multidisciplinary approach led to the successful management of this patient. Even though cherubism is self-limiting, long-term radiographic and clinical surveillance is required. CPD/Clinical Relevance: Dentists should understand the clinico-radiographic presentation of cherubism and have an awareness of how the possible functional and aesthetic complications associated with the condition are managed. [ABSTRACT FROM AUTHOR]

Ollier disease and Maffucci syndrome are characterized by multiple central cartilaginous tumors that are accompanied by soft tissue hemangiomas in Maffucci syndrome. We show that in 37 of 40 individuals with these syndromes, at least one tumor has a mutation in isocitrate dehydrogenase 1 (IDH1) or in IDH2, 65% of which result in a R132C substitution in the protein. In 18 of 19 individuals with more than one tumor analyzed, all tumors from a given individual shared the same IDH1 mutation affecting Arg132. In 2 of 12 subjects, a low level of mutated DNA was identified in non-neoplastic tissue. The levels of the metabolite 2HG were measured in a series of central cartilaginous and vascular tumors, including samples from syndromic and nonsyndromic subjects, and these levels correlated strongly with the presence of IDH1 mutations. The findings are compatible with a model in which IDH1 or IDH2 mutations represent early post-zygotic occurrences in individuals with these syndromes. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented regarding a study on the isocitrate dehydrogenase 1 (IDH1) Arg132 mutations in several cartilaginous tumours which mimics mutation positive cartilaginous tumours, including chondromyxoid fibromas, soft tissue chondromas, and synovial chondromatoses.