大多数垂体肿瘤是散发性的。然而,大约 5% 的肿瘤具有家族遗传性。应考虑对存在较大催乳素瘤的年轻患者(诊断时<30 岁)进行筛查,以辨别其是芳烃受体相互作用蛋白 (AIP) 基因突变,还是 Ⅰ 型多发性内分泌肿瘤综合征。[7]Cazabat L, Bouligand J, Salenave S, et al. Germline AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients. J Clin Endocrinol Metab. 2012 Apr;97(4):E663-70.https://academic.oup.com/jcem/article/97/4/E663/2834108http://www.ncbi.nlm.nih.gov/pubmed/22319033?tool=bestpractice.com[8]Cuny T, Pertuit M, Sahnoun-Fathallah M, et al. Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis. Eur J Endocrinol. 2013 Mar 15;168(4):533-41.http://www.ncbi.nlm.nih.gov/pubmed/23321498?tool=bestpractice.com 在以家族性单发性垂体腺瘤患者为对象的研究中,与 AIP 基因突变相关的催乳素瘤较大,发生于年轻人中(<30 岁),具有侵袭性,波及蝶鞍上区,并对多巴胺受体激动剂治疗有耐药性。[5]Tichomirowa MA, Barlier A, Daly AF, et al. High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas. Eur J Endocrinol. 2011 Oct;165(4):509-15.http://www.ncbi.nlm.nih.gov/pubmed/21753072?tool=bestpractice.com[6]Daly AF, Jaffrain-Rea ML, Ciccarelli A, et al. Clinical characterization of familial isolated pituitary adenomas. J Clin Endocrinol Metab. 2006 Sep;91(9):3316-23.https://academic.oup.com/jcem/article/91/9/3316/2656326http://www.ncbi.nlm.nih.gov/pubmed/16787992?tool=bestpractice.com