致病性生殖系变异在微卫星不稳定性高的胃癌患者的不匹配修复基因中
Jong Hyuk Yun1, Geum Jong Song1, In Cho2
1Department of Surgery, Soonchunhyang University Cheonan Hospital, Soonchunhyang University College of Medicine, Cheonan 31151, Republic of Korea.
概括
林奇综合征 (LS) 与各种癌症有关. 这项研究发现,与西方队列相比,韩国微观卫星不稳定性高的胃癌 (MSI-H GC) 患者的LS发病率较低,突出了其临床相关性.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 胃肠病学 胃肠病学
背景情况:
- 林奇综合征 (LS) 显著增加癌症风险,特别是结直肠,子宫内膜和胃癌 (GC).
- 在韩国的微卫星不稳定性高 (MSI-H) GC患者中,LS的患病率和遗传基础尚不清楚.
- 在MSI-H GC中调查LS对于早期检测和个性化管理至关重要.
研究的目的:
- 在韩国MSI-H GC患者中确定LS相关的致病性生殖系变异的发病率.
- 描述MSI-H GC患者潜在的LS的临床和分子特征.
- 为了将这个队列中的LS发病率与国际数据进行比较.
主要方法:
- 在2011年至2023年间接受胃切除手术的1537名GC患者的回顾性分析.
- 对MSI状态进行查,确定了127 (8.3%) 的MSI-H病例.
- 在123名MSI-HGC患者的正常组织上进行整体外体测序 (WES),以确定不匹配修复 (MMR) 基因中的致病性/可能致病性变异.
主要成果:
- 在127个MSI-H GC病例中,发现了10个LS候选病例.
- 三名患者在MMR基因 (MLH1,MSH6,MSH2) 中已知致病性/可能致病性 (P/LP) 变异.
- 六名患者 (4.9%) 被归类为患有LS或可能的LS,其中包括一个具有未知意义的重新分类变异 (VUS) 的患者.
结论:
- 在韩国MSI-H GC患者中,LS的发病率低于西方人群.
- 这些发现强调了在MSI-H GC的临床管理中考虑LS的重要性.
- 需要进一步的研究,以阐明在不同的GC患者群体中LS的全谱.
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