Department of Endocrinology, William Harvey Research Institute, Bart's and the London School of Medicine, Queen Mary University of London, Charterhouse Square, London EC1M6BQ, UK.
Mol Cell Endocrinol. 2010 Sep 15;326(1-2):71-9. doi: 10.1016/j.mce.2010.05.001. Epub 2010 May 8.
Familial pituitary adenomas occurr in the classical syndromes of MEN1 and Carney Complex as well as in Familial Isolated Pituitary Adenomas (FIPA), an autosomal dominant disease with incomplete penetrance. In some families and also rarely in sporadic tumours germline mutations of a gene located on chromosome 11q13 known as the aryl hydrocarbon receptor interacting protein have been found. This article discusses the AIP mutations in these groups and the different molecular interactions of AIP that may play a role in pituitary tumour formation.
家族性垂体腺瘤发生在经典的 MEN1 和卡尼综合征以及家族性孤立性垂体腺瘤（FIPA）中，这是一种常染色体显性疾病，不完全外显。在一些家族中，甚至在散发性肿瘤中，也发现了位于 11q13 染色体上的一个基因的种系突变，这个基因被称为芳烃受体相互作用蛋白。本文讨论了这些群体中的 AIP 突变以及 AIP 的不同分子相互作用，这些相互作用可能在垂体肿瘤形成中发挥作用。
