NTRK基因变异在肝细胞或肠芽细胞分化类型的胃癌中得到了丰富
Xiaohong Pu1, Yao Fu1, Qi Sun1
1Department of Pathology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China.
Journal of clinical pathology
|July 14, 2023
概括
在缺乏DNA不匹配修复蛋白质 (dMMR) 的胃癌 (GC) 中,NTRK基因变异并不常见. 相反,这些变化是特别发现的胃腺癌与肝细胞或肠芽细胞分化 (GAHED).
科学领域:
- 在瘤学瘤学.
- 分子诊断学 分子诊断学
- 胃肠病学 胃肠病学
背景情况:
- 胃癌 (GC) 具有NTRK变化的临床病理特征尚不清楚.
- 在缺乏DNA不匹配修复蛋白 (dMMR) 的结直肠癌 (CRC) 中,NTRK融合很普遍,但它们在GC中的作用尚未被探索.
研究的目的:
- 研究各种GC亚型中NTRK基因变异的患病率和特征.
- 探索在GC和其他dMMR瘤中NTRK改变和dMMR蛋白表达之间的关系.
主要方法:
- 分析了51个与EBV相关的GC,94个dMMRGC,90个GAHED和256个常规GC病例.
- 在GC和各种dMMR瘤 (包括CRC,十二指腺和子宫内膜腺癌) 中使用光在位杂交 (FISH) 选NTRK融合和放大.
- 在FISH阳性病例中使用下一代测序.
主要成果:
- 在GC中确定了NTRK融合和放大两个案例,两者都富含GAHED.
- 在分析的癌症类型中,仅在dMMR CRC中发现了NTRK基因变异.
结论:
- 在dMMR GC中,NTRK基因变异没有得到丰富.
- NTRK的变化在胃腺癌与肝细胞或肠芽细胞分化 (GAHED) 中特别丰富.
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