Farnebo F, Järhult J, Farnebo L O, Nilsson O, Teh B T, Lagercrantz J, Weber G, Sandelin K, Larsson C
Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
Horm Res. 1997;47(4-6):179-84. doi: 10.1159/000185462.
Multiple endocrine neoplasia type 1 (MEN-1) is characterized by primary hyperparathyroidism, endocrine pancreatic-duodenal and anterior pituitary tumors. The diagnosis is challenging and involves the exclusion of other endocrine neoplasia syndromes with overlapping features. The predisposing genetic defect was assigned to chromosomal region 11q13 based on linkage analysis. Combined tumor and pedigree genotype analysis showed that allele losses in pancreatic, parathyroid and pituitary tumors eliminated the wild-type allele at the 11q13 loci, suggesting inactivation of a tumor suppressor gene in this region. A 5-Mb integrated map of the region has been established by the European consortium on MEN-1. Based on this mapping the critical interval was restricted to 2 Mb, a region within which eight candidate genes are located.
1型多发性内分泌肿瘤（MEN-1）的特征为原发性甲状旁腺功能亢进、内分泌性胰腺十二指肠肿瘤和垂体前叶肿瘤。该疾病的诊断具有挑战性，需要排除具有重叠特征的其他内分泌肿瘤综合征。基于连锁分析，将致病基因缺陷定位于染色体区域11q13。肿瘤与家系基因型联合分析表明，胰腺、甲状旁腺和垂体肿瘤中的等位基因缺失消除了11q13位点的野生型等位基因，提示该区域存在一个肿瘤抑制基因失活。欧洲MEN-1研究联盟已绘制出该区域的5兆碱基整合图谱。基于此图谱，关键区间被限定在2兆碱基，该区域内有8个候选基因。
