Chen Yan, Hu Da-Yan, Wang Ting-Ting, Zhang Ran, Dong Qing, Xu Zhi-Xiu, Wang Lin, Li Tie-Jun
Department of Oral Pathology, Peking University School and Hospital of Stomatology, 22 South Zhongguancun Avenue, Haidian District, Beijing, 100081, People's Republic of China.
Department of Oral Medicine, North China University of Science and Technology, School and Hospital of Stomatology, 82 South Construction Road, Lubei District, Tangshan, 063000, People's Republic of China.
Diagn Pathol. 2016 Sep 22;11(1):91. doi: 10.1186/s13000-016-0532-0.
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.
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.
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.
Mutations inCDC73 were rare in sporadic OF of the jaws, but may affect the pathogenesis of a small subset of tumors of this type.
肿瘤抑制基因CDC73被发现与甲状旁腺功能亢进-颌骨肿瘤综合征（HPT-JT）相关，该综合征的特征为甲状旁腺腺瘤或癌、颌骨骨化性纤维瘤（OF）以及肾脏和子宫病变。在散发性甲状旁腺癌和肾肿瘤中也经常检测到CDC73突变。然而，散发性OF中CDC73突变的发生率和范围尚未明确。
我们对40例散发性颌骨OF的CDC73编码区和侧翼剪接连接区进行了直接测序。我们还使用免疫组织化学方法检测了这些病例中CDC73的蛋白产物 parafibromin。
在40例病例中的2例（5%）中鉴定出两个新的CDC73突变。两者均为位于编码区第1外显子的体细胞突变。无论是否存在CDC73突变，在所有40例病例中均检测到强parafibromin表达。
CDC73突变在散发性颌骨OF中罕见，但可能影响一小部分此类肿瘤的发病机制。
