1型多发性内分泌腺瘤病伴神经低血糖症状及一种新的杂合性MEN1基因突变

Multiple endocrine neoplasia type 1 with neuroglycopenic symptoms with a novel heterozygous MEN1 gene mutation.

作者信息

Jiang Xinchen, Tang Shixiong, Yang Guoqing, Ge Lite, Peng Fan

机构信息

The National & Local Joint Engineering Laboratory of Animal Peptide Drug Development, College of Life Sciences, Hunan Normal University, Changsha, 410006, China.

Hunan Provincical Key Laboratory of Neurorestoratology, the Second Affiliated Hospital, Hunan Normal University, Changsha, 410003, China.

出版信息

World J Surg Oncol. 2025 Jul 22;23(1):294. doi: 10.1186/s12957-025-03942-8.

DOI:10.1186/s12957-025-03942-8

PMID:40696424

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12285111/

Abstract

BACKGROUND

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder caused by mutations in the MEN1 gene located on the long arm of chromosome 11.

CASE PRESENTATION

A 32-year-old male was admitted to the Division of Endocrinology with a three-year history of recurrent episodes of altered consciousness and abnormal mental behavior. Laboratory tests and imaging studies revealed primary hyperparathyroidism (PHPT), multiple pancreatic adenomas, and a pituitary adenoma. Genetic analysis identified a heterozygous germline mutation in exon 2 of the MEN1 gene (NM_130799; c.416A > T, p.(His139Leu)), confirming a diagnosis of Multiple Endocrine Neoplasia Type 1 (MEN1).

CONCLUSIONS

MEN1 patients should be evaluated for clinical manifestations of neuroglycopenia caused by pancreatic neuroendocrine tumors (pNETs). These neuroglycopenic symptoms (altered consciousness and abnormal mental behavior) should be distinguished from the neuropsychiatric and cognitive symptoms associated with PHPT. Furthermore, our report describes the identification of the first mutation associated with MEN1 as NM_130799.2: c.416A > T, p.(His139Leu). It provides valuable insight into the clinical presentation of multiple endocrine neoplasia type 1.

摘要

背景

1型多发性内分泌腺瘤病（MEN1）是一种常染色体显性疾病，由位于11号染色体长臂上的MEN1基因突变引起。

病例报告

一名32岁男性因反复出现意识改变和异常精神行为3年入住内分泌科。实验室检查和影像学研究显示原发性甲状旁腺功能亢进（PHPT）、多发性胰腺腺瘤和垂体腺瘤。基因分析确定MEN1基因第2外显子（NM_130799；c.416A>T，p.(His139Leu)）存在杂合性种系突变，确诊为1型多发性内分泌腺瘤病（MEN1）。

结论

MEN1患者应评估是否存在胰腺神经内分泌肿瘤（pNETs）引起的神经低血糖临床表现。这些神经低血糖症状（意识改变和异常精神行为）应与PHPT相关的神经精神和认知症状相区分。此外，我们的报告描述了首次鉴定出与MEN1相关的突变，即NM_130799.2：c.416A>T，p.(His139Leu)。它为1型多发性内分泌腺瘤病的临床表现提供了有价值的见解。