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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 study the mutation types of AIP gene in primary sporadic pituitary adenomas and analyze the mutation types, incidence and characteristics of the mutation tumors. Methods Totally 76 cases of primary pituitary adenomas confirmed by pathology were selected for DNA extraction from tumor tissues and patients’ blood. The AIP gene mutation types, mutation rates and mutation characteristics were analyzed by PCR amplification and DNA sequencing . Results AIP gene mutation was detected in 5 cases (6.6%) of the specimens and in the blood, all of which were found in aggressive growth hormone type pituitary adenoma patients younger than 40 years old. Conclusion AIP mutations in pituitary adenomas tend to occur in young patients with aggressive growth hormone type pituitary adenoma and may provide evidence for the treatment and prevention of the disease.