在子宫内膜癌的分子分类下下一代测序:有270个病例的经验表明,多个分类器子宫内膜癌的临床行为可能更具侵略性
Kvetoslava Michalova1,2, Andrea Strakova-Peterikova3,4, Ondrej Ondic3,4
1Department of Pathology, Faculty of Medicine in Plzen, University Hospital Plzen, Charles University, Plzen, Czech Republic. kveta.michalova@biopticka.cz.
Virchows Archiv : an international journal of pathology
|December 15, 2024
概括
使用免疫组织化学和下一代测序对子宫内膜癌 (EC) 的分子分类确定了四个子组. 这种综合方法提高了诊断准确度,并揭示了患者的攻击性行为.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 病理学 病理学 病理学
背景情况:
- 对子宫内膜癌 (EC) 的分子分类对于诊断和治疗至关重要.
- 已经确定了四个不同的EC分子子组:POLE突变,超突变 (MMR缺乏),无特异分子谱 (NSMP) 和TP53突变.
研究的目的:
- 评估免疫组织化学 (IHC) 和下一代测序 (NGS) 的联合使用,用于EC的分子分类.
- 描述分子子组并确定潜在的预后标记.
主要方法:
- 在2020年至今期间诊断的270个EC病例的前性分析.
- 针对MMR蛋白和p53的免疫组织化学 (IHC).
- 下一代测序 (NGS) 使用18基因面板进行分子分类.
主要成果:
- 该队列包括18%的POLE突变,31.5%的超突变,50.7%的NSMP和11.1%的TP53突变EC.
- 12例 (4.4%) 被归类为"多个分类器"EC,表现出侵略性行为.
- 在NSMP EC中,PTEN,PIK3CA,ARID1A和KRAS中经常出现突变.
结论:
- 结合IHC和NGS可提供可靠的EC分子分类,包括"多个分类器"的情况.
- 多个分类器EC和POLE突变EC表现出侵略性行为.
- NSMP ECs的遗传复杂性要求进一步调查患者分层和临床试验选择.
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