在冰岛,对结直肠和子宫内膜癌的林奇综合征查
Katla R Kluvers1, Thordur Tryggvason2, Vigdis Stefansdottir3
1University of Iceland, Faculty of Medicine, Reykjavik, Iceland.
Acta oncologica (Stockholm, Sweden)
|January 31, 2025
概括
在冰岛的结直肠和子宫内膜癌患者中,使用不匹配修复 (MMR) 蛋白免疫组织化学 (IHC) 的林奇综合征 (LS) 查显示了70%的灵敏度和88%的特异性. 在这个人群中,MSH6和PMS2缺陷准确地预测LS.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学是一种遗传学.
- 癌症查 癌症查
背景情况:
- 冰岛在2017年使用不匹配修复 (MMR) 蛋白质免疫组织化学 (IHC) 实施了针对林奇综合征 (LS) 的普遍查.
- 这种查适用于所有新诊断的结直肠癌 (CRC) 和子宫内膜癌 (EC) 患者.
研究的目的:
- 在2020-2022年通过MMR IHC评估LS查的准确性.
- 将这些发现与2017-2019年初始查期进行比较.
主要方法:
- 包括从冰岛癌症登记处在2020-2022年间被诊断出CRC和EC的患者.
- 将查结果与deCODE基因型识别数据库进行交叉匹配,以确定LS检测的灵敏度和特异性.
- 为选方法计算的正负预测值.
主要成果:
- 在2020-2022年期间,查采用率增加到CRC的82%,EC的85%,而在2017-2019年为74%和82%的比例.
- 协议的遵守情况有了显著的改善,在2020-2022年达到CRC的90%和EC的95%.
- 对LS检测的总体灵敏度为70%,特异性为88%,具有8.4%的正预测值和99.4%的负预测值.
结论:
- 三个LS病例被MMR IHC查遗漏了 (1个MSH6,2个PMS2载体).
- 这些遗漏病例可能代表与LS无关的零星癌症.
- 患有MMR蛋白质缺乏症,特别是MSH6和PMS2,在冰岛人群中强烈预测了林奇综合征.
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