在阿根廷研究的1型多重内分泌瘤患者的表型和基因型
Patricia Fainstein-Day1,2, Maria Pía Serra1, Tomás Fernandez Gianotti1
1Servicio de Endocrinología, Metabolismo y Medicina Nuclear, Hospital Italiano de Buenos Aires (HIBA), Buenos Aires, Argentina.
Medicina
|June 22, 2024
概括
这项研究详细介绍了阿根廷多发性内分泌新陈代谢1型 (MEN1) 患者的遗传和临床特征. 结果显示,与其他种群相似的表型和基因型, pituitary 瘤的高频率和 MEN1 基因突变的新发现.
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) 是一种遗传性内分泌疾病,影响甲状腺,胃肠和垂体腺.
- 它的患病率估计为每10万个人中2-10个.
研究的目的:
- 描述阿根廷MEN患者的表型和基因型1.
- 在这个人群中识别MEN1基因中的新突变.
主要方法:
- 在68名指数患者和84名亲属中测序了MEN1基因 (编码区域,促进子,外显子1和侧边内核).
- 用于在没有确定序列变异的患者中检测突变的多重联结依赖探头放大 (MLPA).
主要成果:
- 瘤的高患病率:87.5%的甲状腺瘤 (HPT),49%的胃肠胰腺瘤 (GEPT) 和68%的垂体瘤 (PT).
- 在90%的家族病例和51%的零星病例中发现了致病变体,确定了36种不同的变体,包括7种新突变.
- 从23个家庭中,39%的一级亲属被确定为突变携带者.
结论:
- 阿根廷MEN1患者的表型和基因型与全球观察结果一致.
- 一个值得注意的发现是脑下垂体瘤的高频率和发现七个新的MEN1基因突变.
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