Bilbao Garay Ismene, Daly Adrian F, Egaña Zunzunegi Nerea, Beckers Albert
Department of Endocrinology, Hospital Universitario Donostia, 20014 Donostia, Euskadi, Spain.
Department of Endocrinology, Centre Hospitalaire Universitaire de Liège, Liège Université, 4000 Liège, Belgium.
J Clin Med. 2020 Jun 26;9(6):2003. doi: 10.3390/jcm9062003.
Clinically-relevant pituitary adenomas occur in about 1:1000 of the general population, but only about 5% occur in a known genetic or familial setting. Familial isolated pituitary adenomas (FIPA) are one of the most important inherited settings for pituitary adenomas and the most frequent genetic cause is a germline mutation in the () gene. mutations lead to young-onset macroadenomas that are difficult to treat. Most are growth hormone secreting tumors, but all other secretory types can exist and the clinical profile of affected patients is variable. We present an overview of the current understanding of mutation-related pituitary disease and illustrate various key clinical factors using examples from one of the largest mutation-positive FIPA families identified to date, in which six mutation-affected members with pituitary disease have been diagnosed. We highlight various clinically significant features of FIPA and mutations, including issues related to patients with acromegaly, prolactinoma, apoplexy and non-functioning pituitary adenomas. The challenges faced by these mutation-positive patients due to their disease and the long-term outcomes in older patients are discussed. Similarly, the pitfalls encountered due to incomplete penetrance of pituitary adenomas in mutated kindreds are discussed.
临床上相关的垂体腺瘤在普通人群中的发生率约为1:1000，但只有约5%发生在已知的遗传或家族背景中。家族性孤立性垂体腺瘤（FIPA）是垂体腺瘤最重要的遗传背景之一，最常见的遗传原因是（）基因的种系突变。这些突变导致早发性大腺瘤，难以治疗。大多数是分泌生长激素的肿瘤，但也可存在所有其他分泌类型，且受影响患者的临床特征各不相同。我们概述了目前对与该突变相关的垂体疾病的认识，并以迄今发现的最大的一个该突变阳性FIPA家族为例，说明各种关键临床因素，在这个家族中，已有6名受该突变影响且患有垂体疾病的成员被确诊。我们强调了FIPA和该突变的各种具有临床意义的特征，包括与肢端肥大症、泌乳素瘤、垂体卒中及无功能垂体腺瘤患者相关的问题。讨论了这些该突变阳性患者因其疾病所面临的挑战以及老年患者的长期预后。同样地，也讨论了在突变亲属中由于垂体腺瘤不完全外显而遇到的陷阱。
