Department of Endocrinology, CHU de Liège, Liège Université, Liège, Belgium.
Department of Endocrinology, Medical University, Sofia, Bulgaria.
Horm Metab Res. 2020 Aug;52(8):553-561. doi: 10.1055/a-1143-5930. Epub 2020 Apr 16.
Pituitary adenomas are benign tumors with variable functional characteristics that can have a significant impact on patients. The majority arise sporadically, but an inherited genetic susceptibility is increasingly being recognized. Recent advances in genetics have widened the scope of our understanding of pituitary tumorigenesis. The clinical and genetic characteristics of pituitary adenomas that develop in the setting of germline-mosaic and somatic mutations (McCune-Albright syndrome and sporadic acromegaly), germline mutations (multiple endocrine neoplasia type 1), and germline mutations (Carney complex) have been well described. Non-syndromic familial cases of isolated pituitary tumors can occur as familial isolated pituitary adenomas (FIPA); mutations/deletions of the gene have been found in a minority of these. Genetic alterations in have been identified recently as causing X-linked acro-gigantism (X-LAG) leading to very early-onset pediatric gigantism. Associations of pituitary adenomas with other tumors have been described in syndromes like multiple endocrine neoplasia type 4, pheochromocytoma-paraganglioma with pituitary adenoma association (3PAs) syndrome and some of their genetic causes have been elucidated. The genetic etiologies of a significant proportions of sporadic corticotropinomas have recently been identified with the discovery of and mutations. The elucidation of genetic and molecular pathophysiology in pituitary adenomas is a key factor for better patient management and effective follow-up.
垂体腺瘤是具有不同功能特征的良性肿瘤，对患者有重大影响。大多数是散发性的，但越来越多的遗传性遗传易感性被认识到。遗传学的最新进展拓宽了我们对垂体肿瘤发生的理解范围。在种系嵌合体和体细胞突变（McCune-Albright 综合征和散发性肢端肥大症）、种系突变（多发性内分泌肿瘤 1 型）和种系突变（Carney 复合征）背景下发生的垂体腺瘤的临床和遗传特征已经得到了很好的描述。非综合征性家族性孤立性垂体瘤可作为家族性孤立性垂体腺瘤（FIPA）发生；这些病例中的少数发现了 基因的突变/缺失。最近，已经确定 中的遗传改变导致 X 连锁肢端巨大症（X-LAG），导致非常早发性儿科巨大症。垂体腺瘤与其他肿瘤的关联在多发性内分泌肿瘤 4 型、嗜铬细胞瘤-副神经节瘤伴垂体腺瘤关联（3PAs）综合征等综合征中已有描述，其一些遗传原因已被阐明。随着 和 突变的发现，最近确定了相当比例的散发性促肾上腺皮质激素瘤的遗传病因。阐明垂体腺瘤的遗传和分子病理生理学是更好地管理和有效随访患者的关键因素。
