芳羟基受体相互作用蛋白基因与家族性单纯性垂体腺瘤

Aryl Hydrocarbon Receptor Interacting Protein Gene and Familial Isolated Pituitary Adenomas

家族性单纯性垂体腺瘤(FIPA)是一类常染色体显性疾病,其特点为低外显率、早期发病、多呈侵袭样生长及以生长激素腺瘤和泌乳素腺瘤为主。芳羟基受体相互作用蛋白基因(AIP)是抑癌基因,20%左右的FIPA家庭存在AIP杂合性突变,AIP突变导致肿瘤发生发展的分子机制目前尚不清楚。

Familial isolated pituitary adenoma（FIPA） is an autosomal dominant disease,characterized by low penetrance,early-onset disease,more invasive tumor growth,as well as somatotroph and lactotroph adenomas in most cases.It has been indicated that the aryl hydrocarbon receptor interacting protein（AIP） gene is a tumor suppressor gene.Many heterozygous mutations have been discovered in AIP in about 20% of FIPA families.However,the exact molecular mechanism by which its disfunction promotes tumorigenesis of pituitary is unclear.