在患有结肠直肠腺瘤的患者中APC马赛克的患病率和后果
Diantha Terlouw1, Manon Suerink2, Yentl Buitelaar2
1Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands.
Gastroenterology
|March 9, 2026
概括
在9.4%的无法解释的多重症患者中存在APC马赛克. 对于那些患有多种腺瘤的人来说,建议进行测试,监测应包括定期的结肠镜和胃肠腺镜.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 胃肠病学 胃肠病学
背景情况:
- 有相当数量的腺瘤多重症患者缺乏APC生殖系致病变体.
- 无法解释的多重症需要进一步调查遗传原因.
研究的目的:
- 为了确定APC马赛克的患病率在未解释的多重症患者中.
- 建立APC马赛克测试和患者监测的指导方针.
主要方法:
- 针对性的下一代测序被用来分析APC的马赛克.
- 这项研究包括了541名具有多种多重现象类型的患者.
主要成果:
- 在9.4%的患者中检测到APC马赛克.
- 在符合国家遗传多发症检测标准的患者中,检测率更高 (14.3%).
- 在26%的接受食道胃口腺镜检查的马赛克患者中发现了胃口腺息肉.
结论:
- 建议在60岁之前患有≥20个腺瘤或70岁之前患有≥30个腺瘤的患者进行APC马赛克测试,这些患者对生殖系变异呈阴性.
- 马赛克APC患者需要定期进行结肠镜检查和胃肠腺镜检查.
- 应该考虑对马赛克个体的后代进行生殖线检测.
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