胃肠道病理学的分子进步
Avash Das1, Paolo M Chetta2, M Lisa Zhang2
1Department of Pathology, Mass General Brigham, Boston, MA, USA; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.
Seminars in diagnostic pathology
|February 3, 2026
概括
胃肠道癌症,如结肠直肠癌 (CRC) 和胃食道结 (GEJ) 癌,在分子上是多样化的. 了解这些分子亚型和生物标志物指导了精确的瘤治疗.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 病理学 病理学 病理学
背景情况:
- 胃肠腺癌,包括结肠直肠癌 (CRC) 和胃食道结 (GEJ) 癌症,构成了全球重大健康挑战.
- 大规模的多omics分析,特别是癌症基因组图谱 (TCGA),已经阐明了这些癌症的遗传异质性和生物学.
- 将分子生物标志物与组织病理学相结合对于分类,预后和有针对性的干预至关重要.
研究的目的:
- 从病理学家的角度审查分子定义的子组,可操作的生物标志物和CRC和GEJ癌症中不断发展的治疗范式.
- 突出分子分析在促进胃肠道癌症精密瘤学的作用.
主要方法:
- 审查TCGA和其他大规模分析计划的多主题数据.
- 分析既有和新兴的分子生物标志物 (例如,MSI,POLE,RAS,BRAF,HER2,NTRK,PIK3CA,TMB,EBV,PD-L1,CLDN18.2,KRAS G12C) 的分析.
- 整合组织病理学与分子发现进行分类和治疗指导.
主要成果:
- 红细胞瘤亚型包括高TMB和免疫治疗反应的超变异性 (MSI/POLE),以及具有染色体不稳定性和RAS,BRAF,HER2,NTRK等标的非超变异性.
- GEJ癌症分为四个子组:与EBV相关的,MSI,染色体不稳定性和基因组稳定性,每个都有不同的点 (HER2,PD-L1,CLDN18.2).
- 既有生物标志物 (MSI,PD-L1,HER2) 和新兴的生物标志物 (CLDN18.2,TMB,KRAS G12C) 扩大了针对性的治疗选择.
结论:
- 分子亚型和生物标记物识别对于CRC和GEJ癌症的精确瘤学至关重要.
- 组合疗法,包括免疫疗法和向药物,代表了管理这些癌症的范式转变.
- 以病理学家为中心的方法整合了分子和组织病理学数据,优化了患者分层和治疗选择.
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