Rostomyan Liliya, Potorac Iulia, Beckers Pablo, Daly Adrian F, Beckers Albert
Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium.
Department of Clinical Biochemistry, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium.
Ann Endocrinol (Paris). 2017 Jun;78(2):123-130. doi: 10.1016/j.ando.2017.04.012. Epub 2017 May 5.
AIP mutations are rare in sporadic acromegaly but they are seen at a higher frequency among certain specific populations of pituitary adenoma patients (pituitary gigantism cases, familial isolated pituitary adenoma (FIPA) kindreds, and patients with macroadenomas who are diagnosed ≤30 years). AIP mutations are most prevalent in patients with pituitary gigantism (29% of this group were found to have mutations in AIP gene). These data support targeted genetic screening for AIP mutations/deletions in these groups of pituitary adenoma patients. Earlier diagnosis of AIP-related acromegaly-gigantism cases enables timely clinical evaluation and treatment, thereby improving outcomes in terms of excessive linear growth and acromegaly comorbidities.
AIP突变在散发性肢端肥大症中较为罕见，但在某些特定的垂体腺瘤患者群体中（垂体巨人症病例、家族性孤立性垂体腺瘤（FIPA）家族以及诊断时年龄≤30岁的大腺瘤患者）出现的频率更高。AIP突变在垂体巨人症患者中最为常见（该组中有29%的患者被发现AIP基因存在突变）。这些数据支持对这些垂体腺瘤患者群体进行AIP突变/缺失的靶向基因筛查。对AIP相关的肢端肥大症-巨人症病例进行早期诊断能够及时进行临床评估和治疗，从而在过度线性生长和肢端肥大症合并症方面改善预后。
