CDC73 gene mutations in sporadic ossifying fibroma of the jaws.

Yan Chen,Da-Yan Hu,Lin Wang,Qing Dong,Ran Zhang,Zhi-Xiu Xu,Tie-Jun Li,Ting-Ting Wang

doi:10.1186/s13000-016-0532-0

Abstract

BackgroundThe 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.MethodsWe 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.ResultsTwo 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.ConclusionsMutations inCDC73 were rare in sporadic OF of the jaws, but may affect the pathogenesis of a small subset of tumors of this type.

Highlights

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
According to the World Health Organization, it is proposed that benign fibro-osseous lesions be divided into 3 categories, including fibrous dysplasia, ossifying fibroma, and osseous dysplasia [1, 2]
The 17 coding exons of CDC73 were amplified as 15 different fragments with primers derived from the flanking intronic or 3′/5′UTR regions, to allow the detection of mutations that occurred in coding regions or that affected splicing, as previously described [19]

Summary

Introduction

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 been frequently detected in sporadic parathyroid carcinomas and renal tumors. Ossifying fibroma is a benign tumor thought to arise from the periodontal ligament, which potential of continuous growth if not treated [4, 5]. It is a slowgrowing, generally lack of symptoms, but can cause serious cosmetic and functional problems.

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