Marchiori Elena, Pelizzo Maria Rosa, Herten Monika, Townsend Danyelle M, Rubello Domenico, Boschin Isabella Merante
Department of Oncological Surgical and Gastroenterological Sciences (DiSCOG), University of Padova, Padova, Italy; Department of Vascular and Endovascular Surgery, University Hospital Münster, Münster, Germany.
Department of Oncological Surgical and Gastroenterological Sciences (DiSCOG), University of Padova, Padova, Italy.
Biomed Pharmacother. 2017 Aug;92:843-848. doi: 10.1016/j.biopha.2017.05.028. Epub 2017 Jun 9.
Sporadic carcinoma of the parathyroid glands is a rare malignant neoplasia. The GCM2 gene encodes a transcription factor that is crucial to embryonic parathyroid development. The Y282D variant of GCM2 exhibits increased transcriptional activity, and the presence of this variant is significantly associated with a higher prevalence of primitive hyperparathyroidism. The present study investigated the prevalence of the Y282D variant of the GCM2 gene and its association with clinical parameters in patients with a definitive histological diagnosis of sporadic parathyroid carcinoma (SPC) or atypical adenoma (AA).
散发性甲状旁腺腺癌是一种罕见的恶性肿瘤。GCM2基因编码一种对胚胎甲状旁腺发育至关重要的转录因子。GCM2的Y282D变体表现出增强的转录活性,并且该变体的存在与原发性甲状旁腺功能亢进的较高患病率显著相关。本研究调查了GCM2基因Y282D变体在经组织学确诊为散发性甲状旁腺癌(SPC)或非典型腺瘤(AA)患者中的患病率及其与临床参数的关系。