Department of Diabetes, Endocrinology & Clinical Pharmacology, Glasgow Royal Infirmary, Glasgow, UK.
University of Exeter Medical School, Exeter, UK.
Pituitary. 2021 Feb;24(1):48-52. doi: 10.1007/s11102-020-01085-5. Epub 2020 Oct 3.
Pathogenic variants in the aryl hydrocarbon receptor-interacting protein (AIP) gene are increasingly recognised as a cause of familial isolated pituitary adenoma. AIP-associated tumours are most commonly growth hormone (GH) producing. In our cohort of 175 AIP mutation positive patients representing 93 kindreds, 139 (79%) have GH excess, 19 have prolactinoma (17 familial and 2 sporadic cases) and out of the 17 clinically non-functioning tumours 4 were subsequently operated and found to be GH or GH & prolactin immunopositive adenoma. Here we report a family with an AIP variant, in which multiple family members are affected by prolactinoma, but none with GH excess. To our knowledge this is the first reported family with an AIP pathogenic variant to be affected solely by prolactinoma. These data suggest that prolactinoma families represent a small subset of AIP mutation positive kindreds, and similar to young-onset sporadic prolactinomas, AIP screening would be indicated.
AIP 基因中的致病变异越来越被认为是家族性孤立性垂体腺瘤的病因。AIP 相关肿瘤最常见的是生长激素（GH）分泌型。在我们的 175 名 AIP 突变阳性患者队列中，代表 93 个家系，139 例（79%）存在 GH 过多，19 例为泌乳素瘤（17 例家族性和 2 例散发性病例），在 17 例临床无功能肿瘤中，4 例随后手术发现为 GH 或 GH 和泌乳素免疫阳性腺瘤。在这里，我们报告了一个家族，该家族中的多个成员患有泌乳素瘤，但无 GH 过多。据我们所知，这是第一个报道的 AIP 致病性变异仅受泌乳素瘤影响的家族。这些数据表明，泌乳素瘤家族代表 AIP 突变阳性家系的一小部分，与早发性散发性泌乳素瘤类似，应进行 AIP 筛查。
