Background: The tumor suppressor gene CDC73 was found to be associated with hyperparathyroidism-jaw tumor\nsyndrome (HPT-JT), which is characterized by parathyroid adenoma or carcinoma, ossifying fibroma (OF) of the\njaws, and renal and uterine lesions. Mutations in CDC73 have also been frequently detected in sporadic parathyroid\ncarcinomas and renal tumors. However, the prevalence and range of CDC73 mutations in sporadic OFs have not\nbeen established.\nMethods: We directly sequenced coding and flanking splice junctional regions of CDC73 in 40 cases of sporadic\nOF of the jaws. We also used immunohistochemistry to detect parafibromin, the protein product of CDC73, in\nthose cases.\nResults: Two novel CDC73 mutations were identified in 2 of the 40 cases (5 %). Both were somatic mutations\nlocated in exon 1 of the coding region. Strong parafibromin expression was detected in all 40 cases, irrespective\nof the presence of CDC73 mutations.\nConclusions: Mutations inCDC73 were rare in sporadic OF of the jaws, but may affect the pathogenesis of a small\nsubset of tumors of this type.
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