Department of Visceral, Thoracic and Vascular Surgery, Philipps University Marburg, Marburg, Germany; Department of Gastroenterology and Endocrinology, Philipps University Marburg, Marburg, Germany; Department of Diagnostic and Interventional Radiology, Philipps University Marburg, Marburg, Germany.
Dtsch Arztebl Int. 2024 Aug 9;121(16):527-533. doi: 10.3238/arztebl.m2024.0094.
Multiple endocrine neoplasia type 1 (MEN1) is a rare genetic disease of autosomal dominant inheritance, with an estimated prevalence of 3-20/100 000. Its main feature is neuroendocrine neoplasia in the parathyroid glands, the endocrine pancreas, the duodenum, and the pituitary gland. In this article, we review the diagnostic and therapeutic options for MEN1-associated tumors.
We present an analysis and evaluation of retrospective case studies retrieved from PubMed, guidelines from Germany and abroad, and our own experience.
The disease is caused by mutations in the MEN1 gene. Mutation carriers should participate in a regular, specialized screening program from their twenties onward. The early diagnosis and individualized treatment of MEN1-associated tumors can prevent the development of life-threatening hormonal syndromes and prolong the expected life span of MEN1 patients from 55 to 70 years, as well as improving their quality of life. Surgical treatment is based on the location, size, growth dynamics, and functional activity of the tumors. The evidence for treatment strategies is derived from retrospective studies only (level III evidence) and the optimal treatment is often a matter of debate. This is a further reason for treatment in specialized centers.
MEN1 is a rare disease, and, consequently, the evidence base for its treatment is limited. Carriers of disease-causing mutations in the MEN1 gene should be cared for in specialized interdisciplinary centers, so that any appreciable tumor growth or hormonal activity can be detected early and organ-sparing treatment can be provided.
多发性内分泌腺瘤病 1 型（MEN1）是一种罕见的常染色体显性遗传疾病，估计患病率为 3-20/100000。其主要特征是甲状旁腺、内分泌胰腺、十二指肠和垂体的神经内分泌肿瘤。本文回顾了 MEN1 相关肿瘤的诊断和治疗选择。
我们对从 PubMed 检索到的回顾性病例研究、国内外指南以及我们自己的经验进行了分析和评估。
该疾病由 MEN1 基因突变引起。突变携带者应从二十多岁开始参加定期的专门筛查计划。早期诊断和个体化治疗 MEN1 相关肿瘤可以预防危及生命的激素综合征的发展，并将 MEN1 患者的预期寿命从 55 岁延长至 70 岁，同时提高他们的生活质量。手术治疗基于肿瘤的位置、大小、生长动态和功能活性。治疗策略的证据仅来自回顾性研究（III 级证据），最佳治疗方法往往存在争议。这也是在专门中心进行治疗的另一个原因。
MEN1 是一种罕见疾病，因此其治疗的证据基础有限。MEN1 基因致病突变携带者应在专门的多学科中心进行治疗，以便及早发现任何明显的肿瘤生长或激素活性，并提供保留器官的治疗。
