Genetics of Hyperparathyroidism, Including Parathyroid Cancer.
Genetics of Hyperparathyroidism, Including Parathyroid Cancer.
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DOI：
10.1016/j.ecl.2017.01.006
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发表时间：
2017-06
影响因子：
4.5
通讯作者：
Simonds WF
中科院分区：
文献类型：
--
作者：
Simonds WF
原发性甲状旁腺功能亢进症（HPT）是一种代谢性疾病，由一个或多个肿瘤性甲状旁腺过度分泌甲状旁腺激素引起。HPT主要是散发性的，但它可能与家族综合征有关。对这类家族的研究导致了肿瘤抑制基因的发现，现在认为这些基因的功能丧失是许多散发性甲状旁腺肿瘤发生的基础。引起甲状旁腺瘤形成的遗传和获得性癌基因也是已知的。研究甲状旁腺肿瘤DNA的体细胞变化和调查不明原因的家族性HPT的激酶，有望揭示更多与甲状旁腺肿瘤相关的基因。
Primary hyperparathyroidism (HPT) is a metabolic disease caused by the excessive secretion of parathyroid hormone from one or more neoplastic parathyroid glands. HPT is largely sporadic, however it can be associated with a familial syndrome. The study of such families led to the discovery of tumor suppressor genes whose loss–of-function is now recognized to underlie the development of many sporadic parathyroid tumors. Heritable and acquired oncogenes causing parathyroid neoplasia are also known. Studies of somatic changes in parathyroid tumor DNA and investigation of kindreds with unexplained familial HPT promise to unmask more genes relevant to parathyroid neoplasia.