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具有种系 MEN1 疾病基因突变的患者的可变临床表达:基因型-表型相关性的线索。

Variable clinical expression in patients with a germline MEN1 disease gene mutation: clues to a genotype-phenotype correlation.

机构信息

Department of Internal Medicine & Endocrinology, University Medical Center Utrecht, Utrecht, The Netherlands.

出版信息

Clinics (Sao Paulo). 2012;67 Suppl 1(Suppl 1):49-56. doi: 10.6061/clinics/2012(sup01)10.

Abstract

Multiple endocrine neoplasia type 1 is an inherited endocrine tumor syndrome, predominantly characterized by tumors of the parathyroid glands, gastroenteropancreatic tumors, pituitary adenomas, adrenal adenomas, and neuroendocrine tumors of the thymus, lungs or stomach. Multiple endocrine neoplasia type 1 is caused by germline mutations of the multiple endocrine neoplasia type 1 tumor suppressor gene. The initial germline mutation, loss of the wild-type allele, and modifying genetic and possibly epigenetic and environmental events eventually result in multiple endocrine neoplasia type 1 tumors. Our understanding of the function of the multiple endocrine neoplasia type 1 gene product, menin, has increased significantly over the years. However, to date, no clear genotype-phenotype correlation has been established. In this review we discuss reports on exceptional clinical presentations of multiple endocrine neoplasia type 1, which may provide more insight into the pathogenesis of this disorder and offer clues for a possible genotype-phenotype correlation.

摘要

多发性内分泌腺瘤病 1 型是一种遗传性内分泌肿瘤综合征,主要表现为甲状旁腺肿瘤、胃肠胰神经内分泌肿瘤、垂体腺瘤、肾上腺腺瘤以及胸腺、肺或胃神经内分泌肿瘤。多发性内分泌腺瘤病 1 型是由多发性内分泌腺瘤病 1 型肿瘤抑制基因的种系突变引起的。最初的种系突变、野生型等位基因缺失以及修饰性遗传和可能的表观遗传和环境事件最终导致多发性内分泌腺瘤病 1 型肿瘤。多年来,我们对多发性内分泌腺瘤病 1 基因产物 menin 的功能的理解有了显著提高。然而,迄今为止,尚未建立明确的基因型-表型相关性。在这篇综述中,我们讨论了关于多发性内分泌腺瘤病 1 型异常临床表现的报道,这可能为该疾病的发病机制提供更多的了解,并为可能的基因型-表型相关性提供线索。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/944d/3328827/229e7b585e20/cln-67-s1-49-g001.jpg

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