芳羟基受体相互作用蛋白基因与家族性单纯性垂体腺瘤

摘要

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.