原发性散发性垂体腺瘤中AIP基因突变的研究  

Study of AIP gene mutation in primary sporadic pituitary adenoma

作　　者：陈辉[1] 杨东波[1] 李洋[1] 明键光[1] 张俊和[1] 杜文众[1] 孙颖[1] 王韩兵[1] 蒋传路[1] 

机构地区：[1]哈尔滨医科大学附属第二医院神经外科一病房,150086

出　　处：《中国微侵袭神经外科杂志》2016年第7期301-303,共3页Chinese Journal of Minimally Invasive Neurosurgery

摘　　要：目的通过研究原发性散发性垂体腺瘤中AIP基因的突变,分析该基因的突变类型、发生率及突变肿瘤特点。方法选取经病理证实的原发性垂体腺瘤76例,对肿瘤组织及病人血液进行DNA提取,并进行PCR扩增及DNA测序分析,对肿瘤的AIP基因突变类型、突变率及突变特点进行分析。结果 5例(6.6%)标本及血液中检测到AIP基因突变,且均出现在年龄小于40岁的侵袭性生长激素型垂体大腺瘤病人。结论垂体腺瘤中AIP基因突变倾向于发生在年轻的侵袭性生长激素型垂体大腺瘤病人中,可为疾病的治疗和预防提供依据。Objective To investigate the mutation of AIP gene in primary sporadic pituitary adenoma and analyze the type, rate and characteristics of mutation tumors. Method A total of 76 primary pituitary adenoma patients were chosen and verified by pathological examination. The DNA was extracted from the tumor and blood specimen, and then the PCR amplification and DNA sequencing were performed. The type, rate and characteristics of AIP gene mutation of tumors were analyzed. Results AIP gene mutation was found in tumor and blood specimen of 5 patients（ 6. 6 %） and all the mutations were found in invasive macrosomatotropinoma patients who were younger than 40 years. Conclusion AIP gene mutation tends to occur in young and invasive macrosomatotropinoma patients,which can provide a basis for treatment and prevention of the disease.

关 键 词：垂体腺瘤 基因 AIP 基因突变 

分 类 号：R736.4[医药卫生—肿瘤]