RECURRENT HYPERPARATHYROIDISM AND A NOVEL NONSENSE MUTATION IN A PATIENT WITH HYPERPARATHYRIODISM-JAW TUMOR SYNDROME
RECURRENT HYPERPARATHYROIDISM AND A NOVEL NONSENSE MUTATION IN A PATIENT WITH HYPERPARATHYRIODISM-JAW TUMOR SYNDROME
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DOI：
10.4158/ep13187.cr
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发表时间：
2013-11-01
影响因子：
4.2
通讯作者：
Yeh, Michael W.
中科院分区：
文献类型：
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作者：
Abdulla, Amer G.;O'Leary, Erin M.;Yeh, Michael W.
目的：要提出的情况下，甲状旁腺肥大，颌骨肿瘤（HPT-JT）患者与一种新的无义突变的CDC 73基因。方法：我们提出的情况下，一个病人的历史，三个前上颌骨切除术和两个前甲状旁腺切除术谁提出复发原发性甲状旁腺肥大（PHPT）。结果：基因分析显示，在CDC 73的外显子1中存在一个新的无义突变（c.85G>T; pGlu 29）。患者的儿子进行基因检测的CDC 73突变，被发现是negative.Conclusion：HPT-JT是一种罕见的条件，其特点是PHPT和良性肿瘤的下颌骨和上颌骨。高达15%的HPT-JT伴PHPT患者患有甲状旁腺癌。HPT-JT与CDC 73的失活突变有关，CDC 73是一种编码肿瘤抑制蛋白parafibromin的基因。这份报告扩展了我们对这种罕见疾病的遗传学基础的理解，并强调了早期发现的重要性，以防止高钙并发症，如甲状旁腺癌。
Objective: To present the case of a hyperparathyroidism-jaw tumor (HPT-JT) patient with a novel nonsense mutation of the CDC73 gene.Methods: We present the case of a patient with a history of three prior maxillectomies and two prior parathyroidectomies who presented with recurrent primary hyperparathyroidism (PHPT). We also briefly review the literature pertaining to HPT-JT.Results: Genetic analysis revealed a novel nonsense mutation (c.85G>T; pGlu29) in exon 1 of CDC73. The patient's son underwent genetic testing for a CDC73 mutation and was found to be negative.Conclusion: HPT-JT is a rare condition characterized by PHPT and benign tumors of the mandible and maxilla. Up to 15% of HPT-JT patients with PHPT have parathyroid carcinoma. HPT-JT is associated with an inactivating mutation of CDC73, a gene that codes for the tumor suppressor protein parafibromin. This report expands our understanding of the genetics underlying this rare disorder and emphasizes the importance of early detection in order to prevent hypercalcemic complications such as parathyroid carcinoma.