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在丹麦的多发性内分泌新陈代谢2A型中的C611Y生殖系变异1930-2021:全国性研究

Anders Würgler Hansen¹, Peter Vestergaard^2,3,4, Morten Møller Poulsen⁵

¹Department of ORL Head & Neck Surgery and Audiology, Odense University Hospital, 5000 Odense, Denmark.

|February 13, 2025

概括

雷特C611Y变种强烈倾向于使个体患有高透度的甲状腺髓性癌 (MTC),而染细胞瘤 (PHEO) 和原发性甲状腺功能乱 (PHPT) 的风险较低. 总体存活率与一般人群相似.

科学领域:

遗传学遗传学是一个
内分泌学在内分泌学.
在瘤学瘤学.

背景情况:

多发性内分泌瘤2A型 (MEN 2A) 是一种罕见的遗传性癌症综合征.
它是由转染过程中重新排列 (RET) 基因中的致病变体引起的.
对RET C611Y变体的临床数据有限,需要进行风险概况评估.

研究的目的:

建立RET C611Y变种的临床风险概况.
为了确定与RET C611Y变异的个体中MEN 2A相关疾病的透率.

主要方法:

丹麦的一项全国性研究包括128名携带RET C611Y变异的个人.
收集的数据是1930年1月1日以后出生的人,直到2021年4月1日.
随访时间中位数为47年,分析了与年龄相关的透率和存活率.

主要成果:

在70岁时,MTC的年龄相关透率为98%,PHEO为24%,PHPT为10%.
皮肤 Amyloidosis 和 Hirschsprung 的疾病没有观察到.
骨髓性甲状腺癌显示出与年龄相关的显著进展,56%的甲状腺切除病例实现了生物化学治愈.

结论:

RET C611Y变种与非常高的MTC透率和低的PHEO/PHPT透率有关.
皮肤 Amyloidosis 和 Hirschsprung 的疾病是罕见的与这种变体.
MTC表现出适度的侵略性与可变性,整体存活率可能接近一般人群的总存活率.

关键词:

C611YY 这是一个很好的例子.在RET的基础上,RET是RET.基因型基因型基因型多发性内分泌瘤2型 2型现象型现象型是一种现象型.

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