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Multiple endocrine neoplasias: advances and challenges for the future.
Journal of Internal Medicine ( IF 11.1 ) Pub Date : 2009-07-01 , DOI: 10.1111/j.1365-2796.2009.02108.x
M Alevizaki 1 , C A Stratakis
Affiliation  

Several important advances have been made over the last 2 years, since the last international workshop on multiple endocrine neoplasias (MENs) that was held in Marseilles, France (MEN2006). The series of articles that are included in this issue summarize the most important of these advances as they were presented in Delphi, Greece, during the 11th International Workshop on MENs, September 25-27, 2008 (MEN2008). This editorial summarizes some of these advances: the identification of the AIP, and the PDE11A and PDE8B genes by genome-wide association (GWA) studies as predisposing genes for pituitary and adrenal tumours, respectively, the discovery of p27 mutations in a new form of MEN similar to MEN type 1 (MEN 1) that is now known as MEN 4, the molecular investigations of Carney triad (CT), a disorder that associates paragangliomas (PGLs), gastrointestinal stromal tumour (GISTs), and pulmonary chondromas (PCH) with pheochromocytomas and adrenocortical adenomas and other lesions, and the molecular elucidation of the association of GISTs with paragangliomas (Carney-Stratakis syndrome) that is now known to be because of SDHB, SDHC, and SDHD mutations. Molecular investigations in Carney complex (another MEN also described by Dr. Carney, who during the meeting, along with Dr. Charles E. ('Gene') Jackson was honoured for his life-long and many contributions to the field) have also revealed the role of cyclic AMP signalling in tumorigenesis. As our knowledge of the molecular causes of MENs increases, the challenge is to translate these discoveries in better treatments for our patients. Indeed, new advances in the preventive diagnosis and molecular treatment of MEN 1 and MEN 2, respectively, continued unabated, and an update on this front was also presented at MEN2008 and is included in this issue.

中文翻译:

多发性内分泌肿瘤:未来的进步和挑战。

自上次在法国马赛举行的多发性内分泌肿瘤 (MEN) 国际研讨会 (MEN2006) 以来,过去 2 年取得了多项重要进展。本期所包含的系列文章总结了这些进展中最重要的进展,这些进展是在 2008 年 9 月 25 日至 27 日 (MEN2008) 第 11 届国际 MEN 研讨会期间在希腊德尔福展示的。这篇社论总结了其中一些进展:通过全基因组关联 (GWA) 研究将 AIP、PDE11A 和 PDE8B 基因分别鉴定为垂体和肾上腺肿瘤的易感基因,发现 p27 突变的新形式MEN 类似于 MEN 1 型 (MEN 1),现在称为 MEN 4,卡尼三联征 (CT) 的分子研究,这是一种与副神经节瘤 (PGL) 相关的疾病,胃肠道间质瘤 (GIST) 和肺软骨瘤 (PCH) 伴嗜铬细胞瘤和肾上腺皮质腺瘤及其他病变,以及 GIST 与副神经节瘤 (Carney-Stratakis 综合征) 关联的分子阐明,现在已知是由于 SDHB、SDHC和 SDHD 突变。卡尼复合体中的分子研究(卡尼博士也描述了另一个男性,他在会议期间与查尔斯 E.(“基因”)杰克逊博士一起因其在该领域的终生和许多贡献而受到表彰)也揭示了环 AMP 信号在肿瘤发生中的作用。随着我们对 MEN 分子原因的了解不断增加,挑战在于将这些发现转化为对我们患者更好的治疗。事实上,MEN 1 和 MEN 2 的预防诊断和分子治疗的新进展,
更新日期:2019-11-01
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