The MEN1 Gene and Pituitary Tumours
The MEN1 Gene and Pituitary Tumours
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DOI：
10.1159/000192450
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发表时间：
2009-01-01
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影响因子：
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通讯作者：
Marx, Stephen J.
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文献类型：
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作者：
Agarwal, Sunita K.;Ozawa, Atsushi;Marx, Stephen J.
散发性多发性内分泌瘤1型（MEN 1）定义为发生在三种主要内分泌组织类型中的两种：甲状旁腺、垂体和胰十二指肠。一个泌乳素瘤变异或Burin变异的MEN 1被发现发生在三个大的kindeles，更多的泌乳素瘤和更少的胃泌素瘤比典型的MEN 1。MEN 1肿瘤与普通肿瘤的不同之处在于显示来自MEN 1基因的特征（例如较大的垂体肿瘤）。他们也表现出肿瘤多样性的各种表达;然而，MEN 1的垂体瘤通常是孤立的。在儿童时期MEN 1携带者的诊断不是针对癌症，而是针对良性病态肿瘤。1例MEN 1患者在5岁时发生病态泌乳素瘤;因此，这是建议对携带者进行肿瘤监测的最早年龄。MEN I基因在30%的某些类型的常见内分泌肿瘤（例如甲状旁腺腺瘤、胃泌素瘤、胰岛素瘤和支气管类癌）中显示双等位基因失活，但在仅1-5%的常见垂体肿瘤中显示双等位基因失活。在小鼠中MEN 1的杂合敲除提供了一个强大的MEN 1模型，并已被发现支持进一步研究垂体肿瘤的抗血管生成治疗。在某些MEN 1样状态下MEN 1突变的罕见性有助于鉴定其他突变基因，如AIP，HRPT 2和p27（Kip 1）。我们提出了最近的临床和基本的研究结果MEN 1基因，特别是关于遗传性与常见的各种垂体瘤。版权所有（C）2009 S. Karger AG，巴塞尔
Sporadic multiple endocrine neoplasia type 1 (MEN1) is defined as the occurrence of tumours in two of three main endocrine tissue types: parathyroid, pituitary and pancreaticoduodenal. A prolactinoma variant or Burin variant of MEN1 was found to occur in three large kindreds, with more prolactinomas and fewer gastrinomas than typical MEN1. MEN1 tumours differ from common tumours by showing features from the MEN1 gene (e.g. larger pituitary tumours). They also show various expressions of tumour multiplicity; however, pituitary tumour in MEN1 is usually solitary. Diagnosis in MEN1 carriers during childhood is not directed at cancers but at benign morbid tumours. Morbid prolactinoma occurred at the age of 5 years in one MEN1 individual; hence, this is the earliest age at which to recommend tumour surveillance in carriers. The MEN I gene shows biallelic inactivation in 30% of some types of common variety endocrine tumours (e.g. parathyroid adenoma, gastrinoma, insulinoma and bronchial carcinoid), but in only 1-5% of common pituitary tumours. Heterozygous knockout of MEN1 in mice provides a robust model of MEN1 and has been found to support further research on anti-angiogenesis therapy for pituitary tumours. The rarity of MEN1 mutations in some MEN1-like states aids the identification of other mutated genes, such as AIP, HRPT2 and p27(Kip1). We present recent clinical and basic findings about the MEN1 gene, particularly concerning hereditary vs. common variety pituitary tumours. copyright (C) 2009 S. Karger AG, Basel