多发性内分泌腺瘤Ⅰ型综合症 (MEN1) 是一种由MEN1肿瘤抑制基因突变导致的疾病，导致高甲状旁腺功能亢进、垂体腺瘤和肠胰神经内分泌肿瘤。胰腺神经内分泌肿瘤 (PNETs) 是MEN1患者死亡的主要原因。尽管一直未能确定一致的基因型-表型相关性，但发现MEN1第2、9和10外显子基因突变可能与转移性PNET有关；患有这些基因突变的患者可能从更强的监测和积极的治疗中获益。此外，MEN1相关PNET和散发性PNET之间的表观遗传差异开始显现，但需要进一步研究以建立清晰的表型关联。由Elsevier Inc.发表。

Multiple endocrine neoplasia type 1 syndrome (MEN1) is a disease caused by mutations in the MEN1 tumor suppressor gene leading to hyperparathyroidism, pituitary adenomas, and entero-pancreatic neuroendocrine tumors. Pancreatic neuroendocrine tumors (PNETs) are a major cause of mortality in patients with MEN1. Identification of consistent genotype-phenotype correlations has remained elusive, but MEN1 mutations in exons 2, 9, and 10 may be associated with metastatic PNETs; patients with these mutations may benefit from more intensive surveillance and aggressive treatment. In addition, epigenetic differences between MEN1-associated PNETs and sporadic PNETs are beginning to emerge, but further investigation is required to establish clear phenotypic associations.Published by Elsevier Inc.