Department of Endocrinology, Diabetes and Rheumatology, University Hospital Duesseldorf, Duesseldorf, Moorenstrasse 5, Germany.
Endocrine. 2011 Apr;39(2):153-9. doi: 10.1007/s12020-010-9424-3. Epub 2010 Nov 11.
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant tumor syndrome that may be caused by mutations in the MEN1 gene on 11q13. Loss of function of the tumor suppressor gene MEN1 leads to synchronous or metachronous appearance of neuroendocrine tumors arising from neuroendocrine cells of the parathyroid and pituitary glands, the duodenum and pancreatic islets, and other endocrine organs such as the adrenal cortex. We here present a patient with MEN1 who developed hyperparathyroidism, multiple well differentiated functionally inactive neuroendocrine tumors of the pancreas and an adrenal carcinoma. We describe a new mutation at codon 443 in the coding region of exon 9 in the MEN1 gene, where a cytosine residue was exchanged for adenosine (TCC > TAC) and, consequently, serine for tyrosine (p.Ser443Tyr; c.1328C > A). [corrected] Also, we provide clinical data that may add to the genotype-phenotype discussion. We conclude that the novel mutation in the MEN1 gene described herein was clinically relevant.
多发性内分泌腺瘤病 1 型（MEN1）是一种常染色体显性肿瘤综合征，可能由 11q13 上的 MEN1 基因突变引起。肿瘤抑制基因 MEN1 的功能丧失导致来自甲状旁腺和垂体、十二指肠和胰岛以及肾上腺皮质等其他内分泌器官的神经内分泌细胞的同步或异时出现的神经内分泌肿瘤。我们在此介绍了一位 MEN1 患者，其患有甲状旁腺功能亢进症、胰腺多发性分化良好的无功能神经内分泌肿瘤和肾上腺癌。我们在 MEN1 基因外显子 9 的编码区第 443 密码子处描述了一个新的突变，其中一个胞嘧啶残基被替换为腺嘌呤（TCC>TAC），因此丝氨酸被替换为酪氨酸（p.Ser443Tyr；c.1328C>A）。[校正]此外，我们提供了可能增加基因型-表型讨论的临床数据。我们得出结论，本文所述的 MEN1 基因中的新突变具有临床相关性。
