Jaffrain-Rea Marie-Lise, Daly Adrian F, Angelini Mariolina, Petrossians Patrick, Bours Vincent, Beckers Albert
a University of L'Aquila, via Vetoio, Coppito 2, 67100 L'Aquila, Italy.
b Neuromed Institute, via Atinense, 86077 Pozzilli, Italy.
Expert Rev Endocrinol Metab. 2011 Mar;6(2):195-214. doi: 10.1586/eem.10.87.
Pituitary adenomas usually present sporadically, with a multifactorial pathogenesis including somatic mutational events in cancer-related genes. Genetic predisposition implies the presence of germline DNA alterations with a range of impacts on pituitary cell biology, translating into a variable penetrance of the disease. Genetic causes must be considered in the presence of specific clinical settings, such as familial occurrence of pituitary adenoma, with or without extrapituitary diseases, and may also be suspected in young patients (<30 years of age) with macroadenomas. We review the clinical implications of genetic predisposition, with special attention on multiple endocrine neoplasia type 1, Carney complex and familial isolated pituitary adenoma. Genetic screening in selected patients with an apparently sporadic disease is also discussed.
垂体腺瘤通常为散发性，其发病机制是多因素的，包括癌症相关基因中的体细胞突变事件。遗传易感性意味着存在种系DNA改变，对垂体细胞生物学有一系列影响，导致疾病的外显率可变。在特定临床情况下，如伴有或不伴有垂体外疾病的垂体腺瘤家族性发病，必须考虑遗传原因，在患有大腺瘤的年轻患者（<30岁）中也可能怀疑有遗传原因。我们回顾了遗传易感性的临床意义，特别关注1型多发性内分泌肿瘤、卡尼综合征和家族性孤立性垂体腺瘤。还讨论了对某些看似散发性疾病患者进行基因筛查的问题。
