大型甲状腺癌相关综合征的人口患病率
Samantha L White1, Taylor Jamil2, Caitlin Bell1
1Division of Endocrinology, Diabetes and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
The Journal of clinical endocrinology and metabolism
|April 15, 2025
概括
多重内分泌瘤2型 (MEN2) 和PTEN瘤综合征 (PHTS) 的患病率明显高于之前的估计. 许多患有这些甲状腺癌相关综合征的人仍然未被诊断出来,这影响了临床管理策略.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 流行病学 流行病学
背景情况:
- 了解甲状腺癌相关综合征的人口患病率对于有效的生殖基因检测和临床管理至关重要.
- 遗传性综合征显著增加患甲状腺癌的风险,需要准确的患病率数据.
研究的目的:
- 为了估计美国主要甲状腺癌相关遗传综合征的人口患病率.
- 利用来自我们所有人的研究计划和英国生物库的数据来确定综合征的频率.
主要方法:
- 横截面研究分析了来自ClinVar.的致病性和可能致病性 (P/LP) 变体.
- 包括来自我们所有人的245,394名参与者和来自英国生物银行的469,558名参与者.
- 基于已识别的P/LP变体计算的综合征患病率.
主要成果:
- 多发性内分泌新陈代谢2型 (MEN2),PTEN哈马托马综合征 (PHTS) 和家族腺瘤多重症1型 (FAP) 与甲状腺癌有显著的相关性.
- 在我们所有人中流行: MEN2 (1:2,172),PHTS (1:8,764),FAP (1:8,461).
- 在英国生物库中的流行率:MEN2 (1:2,348),PHTS (1:13,043),FAP (1:8,238).
结论:
- 人口中MEN2和PHTS的流行率大约是目前估计的10-20倍.
- 许多患有这些综合征的人没有被诊断为甲状腺癌.
- 这些发现可能需要对患有中度风险RET突变的患者进行修订的临床方法.
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