Aryl Hydrocarbon Receptor Interacting Protein Gene (AIP) Mutations are Rare in Patients with Hormone Secreting or Non-secreting Pituitary Adenomas
Aryl Hydrocarbon Receptor Interacting Protein Gene (AIP) Mutations are Rare in Patients with Hormone Secreting or Non-secreting Pituitary Adenomas
复制标题
DOI：
10.1055/s-2008-1065366
复制
发表时间：
2008-11-01
影响因子：
1.8
通讯作者：
Schilling, T.
中科院分区：
文献类型：
--
作者：
Buchbinder, S.;Bierhaus, A.;Schilling, T.
目的：最近的资料表明，芳香烃受体相互作用蛋白基因（AIP）的突变与垂体腺瘤有关。AIP被认为是一个肿瘤抑制基因。方法：110例居住在德国的白种人垂体腺瘤（55激素分泌，55无功能）进行了检查AIP突变。在2例患者中发现杂合突变R16H（c.47G>A），在1例患者中在终止密码子下游60 bp的3'UTR中发现杂合G>C改变。所有3例患者均患有无功能腺瘤。此外，一个沉默的多态性，D172D（c.516C>T），被发现在3例无功能腺瘤，在2例泌乳素瘤和1例肢端肥大症。结论：AIP突变是罕见的散发性垂体腺瘤在德国人口和发生独立的激素分泌的腺瘤。
Objective: Recent data suggest that mutations in the aryl hydrocarbon receptor interacting protein gene (AIP) are associated with pituitary adenomas. AIP is considered to be a tumour suppressor gene.Methods: 110 Caucasian patients living in Germany with pituitary adenoma (55 hormone secreting, 55 non-functioning) were examined for AIP mutations.Results: Three patients (2.7%) harboured an AIP germline mutation. A heterozygous mutation, R16H (c.47G>A), was found in two patients and a heterozygous G>C change in the 3'UTR, 60 bp downstream of the termination codon, in one patient. All three patients suffered from non-functioning adenoma. Additionally, a silent polymorphism, D172D (c.516C>T), was found in 3 patients with non-functioning adenoma, in 2 patients with prolactinoma and in one patient with acromegaly.Conclusions: AIP mutations are rare in sporadic pituitary adenomas in the German population and occur independently from a hormone secretion of the adenoma.