病例报告:多重内分泌瘤1型病例及其血统的调查和描述
Yifan Liu1, Ling Cui2, Shiwei Wang3
1Clinical Medicine Department, The Second Affiliated Hospital of China Medical University, Shenyang, Liaoning, China.
Frontiers in endocrinology
|February 9, 2026
概括
多发性内分泌新陈代谢1型 (MEN1),一种罕见的遗传性疾病,可以与瘤一起出现,这是非常罕见的同时发生. 一项家庭研究表明,一种特定的遗传变异可能会导致MEN1的发展.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
背景情况:
- 多发性内分泌新陈代谢1型 (MEN1) 是一种遗传性疾病,导致内分泌腺体的瘤.
- MEN1与20多种瘤类型有关,但瘤的发生非常罕见.
研究的目的:
- 报告一个罕见的MEN1病例与瘤并发.
- 为了研究 MEN1 的遗传基础,在一个罕见的共同发生的家族中.
主要方法:
- 一个被诊断为MEN1和瘤的女性患者的临床病例报告.
- 对患者和7名家庭成员的遗传分析,包括DNA提取和测序.
- 鉴定出基因变异的分类,包括一个VUS (NM_130799.2:c.512G>A).
主要成果:
- 一名患有MEN1的女性患者被诊断出患有瘤.
- 一种遗传变异 (NM_130799.2:c.512G>A,p.Arg171Gln),最初是一个VUS,被确定.
- 这种变种在多个家庭成员中被发现,包括那些受到MEN1影响的人.
结论:
- 同时发生MEN1和瘤的情况极为罕见.
- 鉴定的遗传变异 (NM_130799.2:c.512G>A) 可能与该家族内的MEN1致病性有关.
- 需要进一步的研究和长期跟踪,以确认变种的作用.
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