Petty E M, Glynn M, Bale A E
Department of Human Genetics, University of Michigan, Ann Arbor, MI.
Methods Mol Med. 2001;49:227-42. doi: 10.1385/1-59259-081-0:227.
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome characterized by the predisposition to develop both peptic ulcer disease and a wide variety of endocrine tumors usually in adolescence and adulthood. Specifically, hyperplasia and/or tumors (most often adenomas) of the parathyroid, pancreatic islet cells, anterior pituitary, and adrenal cortical glands are classically described in affected individuals who have MEN1 (1,2). MEN1 is a highly penetrant disorder whose onset is generally during adult life with the occurrence of at least one, but most often more than one, of the aforementioned tumors. The age-related penetrance of this disorder based on analysis in 63 unrelated kindreds is 7, 52, 87, 98, 99, and 100% by 10, 20, 30, 40, 50, and 60 yr, respectively (3). The disorder is estimated to occur in approx 1 in 30,000 to 1 in 50,000 individuals. Most cases are associated with a positive family history of the disorder, but new germline mutations have been identified in a small percentage of individuals having a negative family history of the disorder but classic features of MEN1 (3-7).
多发性内分泌腺瘤病1型（MEN1）是一种常染色体显性综合征，其特征是通常在青春期和成年期易患消化性溃疡病和多种内分泌肿瘤。具体而言，患有MEN1的个体通常会出现甲状旁腺、胰岛细胞、垂体前叶和肾上腺皮质的增生和/或肿瘤（最常见的是腺瘤）（1,2）。MEN1是一种外显率很高的疾病，其发病通常在成年期，会出现至少一种，但最常见的是不止一种上述肿瘤。根据对63个无亲缘关系的家系的分析，该疾病与年龄相关的外显率在10、20、30、40、50和60岁时分别为7%、52%、87%、98%、99%和100%（3）。据估计，该疾病在大约30000分之一至50000分之一的个体中发生。大多数病例与该疾病的阳性家族史有关，但在一小部分无该疾病家族史但具有MEN1典型特征的个体中也发现了新的种系突变（3-7）。
