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Background  The tumor suppressor gene  CDC73  was found to be associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT), which is characterized by parathyroid adenoma or carcinoma, ossifying fibroma (OF) of the jaws, and renal and uterine lesions. Mutations in  CDC73  have also been frequently detected in sporadic parathyroid carcinomas and renal tumors. However, the prevalence and range of  CDC73  mutations in sporadic OFs have not been established.    Methods  We directly sequenced coding and flanking splice junctional regions of  CDC73  in 40 cases of sporadic OF of the jaws. We also used immunohistochemistry to detect parafibromin, the protein product of  CDC73 , in those cases.    Results  Two novel  CDC73  mutations were identified in 2 of the 40 cases (5 %). Both were somatic mutations located in exon 1 of the coding region. Strong parafibromin expression was detected in all 40 cases, irrespective of the presence of  CDC73  mutations.    Conclusions  Mutations in CDC73  were rare in sporadic OF of the jaws, but may affect the pathogenesis of a small subset of tumors of this type.

CDC73 gene mutations in sporadic ossifying fibroma of the jaws