Alvelos Maria Inês, Mendes Maria, Soares Paula
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), 4200-465 Porto, Portugal.
Genet Res Int. 2011;2011:275802. doi: 10.4061/2011/275802. Epub 2011 Sep 8.
Primary hyperparathyroidism (PHPT) is a frequent endocrine disorder characterized by an excessive autonomous production and release of parathyroid hormone (PTH) by the parathyroid glands. This endocrinopathy may result from the development of a benign lesion (adenoma or hyperplasia) or from a carcinoma. Most of the PHPT cases occur sporadically; however, approximately 10% of the patients present a familial form of the disease. The molecular mechanisms underlying the pathogenesis of sporadic PHPT are incompletely understood, even though somatic alterations in MEN1 gene and CCND1 protein overexpression are frequently observed. The MEN1 gene is mutated in about 30% of the parathyroid tumours and the protooncogene CCND1 is implicated in parathyroid neoplasia by rearrangements, leading to an overexpression of CCND1 protein in parathyroid cells. The aim of this work is to briefly update the molecular alterations underlying sporadic primary hyperparathyroidism.
原发性甲状旁腺功能亢进症（PHPT）是一种常见的内分泌疾病，其特征是甲状旁腺自主过量产生和释放甲状旁腺激素（PTH）。这种内分泌病可能由良性病变（腺瘤或增生）或癌发展而来。大多数PHPT病例为散发性；然而，约10%的患者表现为家族性疾病形式。尽管经常观察到MEN1基因的体细胞改变和CCND1蛋白过表达，但散发性PHPT发病机制的分子机制仍未完全了解。约30%的甲状旁腺肿瘤中MEN1基因发生突变，原癌基因CCND1通过重排参与甲状旁腺肿瘤形成，导致甲状旁腺细胞中CCND1蛋白过表达。这项工作的目的是简要更新散发性原发性甲状旁腺功能亢进症的分子改变。
