Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
J Clin Endocrinol Metab. 2018 Apr 1;103(4):1296-1301. doi: 10.1210/jc.2017-02340.
Multiple endocrine neoplasia type 1 (MEN1) is complex with regard to clinical expressions, management, and molecular pathways. Advances are being made broadly and in focused aspects. Selected topics are presented for their developments since publication of the most recent MEN1 consensus guidelines 6 years ago.
Topics were selected for clinical impact or broad interest or both. For each topic, information was obtained from original reports and reviews.
The selected topics are as follows: tumor behavior and breast cancer in MEN1; foregut neuroectoderm tumor screening, biomarkers periodically to detect tumor emergence of foregut neuroectoderm tumors, 68Ga dotatate positron emission tomography/computed tomography for pancreatic and duodenal neuroectodermal tumor imaging, and glucagon-like peptide-1 receptor scintigraphy for insulinoma; therapy, the size of pancreatic neuroendocrine tumor (NET) as one criterion for surgery, minimally invasive surgery of pancreatic NETs, and 177Lu dotatate therapy; MEN1 gene, the search for the MEN1/menin pathway and MEN1 or GCM2 mutation in familial isolated hyperparathyroidism, and MEN1 mutation-positive vs mutation-negative cases of MEN1 are different.
MEN1 topics are a rich and fast-moving area. Important highlights stand out, and major and rapid advances will continue into the near future.
多发性内分泌腺瘤病 1 型(MEN1)在临床表现、管理和分子途径方面都很复杂。目前已经取得了广泛的进展,并在某些特定领域取得了突破。自 6 年前发布最新的 MEN1 共识指南以来,我们选择了一些具有发展潜力的专题进行介绍。
选择具有临床影响或广泛兴趣的专题。对于每个专题,我们从原始报告和综述中获取信息。
选定的专题如下:MEN1 中的肿瘤行为和乳腺癌;前肠神经外胚层肿瘤筛查、生物标志物定期检测前肠神经外胚层肿瘤的发生、68Ga 生长抑素类似物正电子发射断层扫描/计算机断层扫描用于胰腺和十二指肠神经外胚层肿瘤的成像、以及胰高血糖素样肽-1 受体闪烁显像用于胰岛素瘤;治疗,胰腺神经内分泌肿瘤(NET)的大小作为手术的一个标准、胰腺 NET 的微创手术、以及 177Lu 生长抑素类似物治疗;MEN1 基因,寻找 MEN1/menin 通路和家族性孤立性甲状旁腺功能亢进症中的 MEN1 或 GCM2 突变,以及 MEN1 突变阳性与阴性病例的不同。
MEN1 专题是一个丰富且快速发展的领域。重要的亮点突出,并且在不久的将来还会有重大和快速的进展。