Trump D, Farren B, Wooding C, Pang J T, Besser G M, Buchanan K D, Edwards C R, Heath D A, Jackson C E, Jansen S, Lips K, Monson J P, O'Halloran D, Sampson J, Shalet S M, Wheeler M H, Zink A, Thakker R V
MRC Molecular Endocrinology Group, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.
QJM. 1996 Sep;89(9):653-69. doi: 10.1093/qjmed/89.9.653.
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the combined occurrence of parathyroid, pancreatic islet and anterior pituitary tumours. To facilitate a screening programme for MEN1, we investigated 709 people (364 males and 345 females, age range 1-84 years) from 62 MEN1 families, and 36 non-familial MEN1 patients. Of those investigated, 220 (95 males and 125 females, age range 8-79 years) suffered from MEN1. Parathyroid, pancreatic and pituitary tumours occurred in 95%, 41% and 30% of the patients, respectively. Parathyroid tumours were the first manifestation of MEN1 in 87% of patients, and amongst the pituitary and pancreatic tumours, somatotrophinomas and gastrinomas were more common in patients above the age of 40 years, whilst insulinomas occurred more frequently in patients below the age of 40 years. Biochemical screening indicated that the penetrance of MEN1 by the ages of 20, 35 and 50 years was 43%, 85% and 94%, respectively, and that the development of MEN1 was confined to first-degree relatives in 91% of patients and to second-degree relatives in 9% of patients. These findings have helped to define a proposed screening programme for MEN1.
1型多发性内分泌腺瘤病（MEN1）是一种常染色体显性疾病，其特征为甲状旁腺、胰岛和垂体前叶肿瘤合并出现。为推动MEN1筛查项目，我们对来自62个MEN1家族的709人（364名男性和345名女性，年龄范围1 - 84岁）以及36名非家族性MEN1患者进行了调查。在接受调查的人群中，220人（95名男性和125名女性，年龄范围8 - 79岁）患有MEN1。甲状旁腺、胰腺和垂体肿瘤分别出现在95%、41%和30%的患者中。甲状旁腺肿瘤是87%患者中MEN1的首发表现，在垂体和胰腺肿瘤中，生长激素瘤和胃泌素瘤在40岁以上患者中更为常见，而胰岛素瘤在40岁以下患者中出现得更频繁。生化筛查表明，MEN1在20岁、35岁和50岁时的外显率分别为43%、85%和94%，并且91%患者中MEN1的发病局限于一级亲属，9%患者中局限于二级亲属。这些发现有助于确定一项提议的MEN1筛查项目。
