Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, Division of Medical Genetics, Italy.
Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, Unit of Endocrinology, San Giovanni Rotondo, FG, Italy.
Best Pract Res Clin Endocrinol Metab. 2018 Dec;32(6):891-908. doi: 10.1016/j.beem.2018.11.001. Epub 2018 Nov 20.
Parathyroid tumors represent an elusive endocrine neoplasia, which lead to primary hyperparathyroidism, pHPT, a common endocrine calcium disorder characterized by hypercalcemia and normal-high parathormone secretion. Parathyroid tumours are benign adenomas or multiple glands hyperplasia in the vast majority (>99% of cases), while malignant neoplasms are rare (less than 1%). Despite pHPT is a common disorder, our knowledge about the genetic predisposition and molecular pathophysiology is limited to the familial syndromic forms of parathyroid tumour, that, however, represent not more than the 10% of all the cases; instead, the pathophysiology of sporadic forms remains an open field, although data about epigenetic mechanisms or private genes have been supposed. Here we present an overview of more recent acquisitions about the genetic causes along with their molecular mechanisms of benign, but also, malignant parathyroid tumours either in sporadic and familial presentation.
甲状旁腺肿瘤是一种难以捉摸的内分泌肿瘤，导致原发性甲状旁腺功能亢进症（pHPT），这是一种常见的内分泌钙紊乱，其特征是高钙血症和正常高甲状旁腺激素分泌。甲状旁腺肿瘤绝大多数为良性腺瘤或多腺体增生（>99%的病例），而恶性肿瘤则较为罕见（<1%）。尽管 pHPT 是一种常见疾病，但我们对其遗传易感性和分子病理生理学的了解仅限于甲状旁腺肿瘤的家族综合征形式，然而，这些形式仅占所有病例的不到 10%；相反，散发性形式的病理生理学仍然是一个未解决的领域，尽管已经假设了关于表观遗传机制或私人基因的信息。在这里，我们概述了最近在遗传原因及其分子机制方面的研究进展，包括良性和恶性甲状旁腺肿瘤，无论是在散发性还是家族性表现中。
