两个儿科 supratentorial 结尾瘤具有新型 PLAG1 融合
Linmao Zheng1,2, Jinyan Zhang1,2, Jing Hou1,2
1Department of Pathology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Acta neuropathologica communications
|February 5, 2026
概括
确定了两种具有新型PLAG1融合的儿科 supratentorial 末端瘤,代表了潜在的新亚型. 这些发现强调了分子分析在分类中枢神经系统 (CNS) 瘤中的重要性.
科学领域:
- 神经瘤学神经瘤学
- 分子病理学分子病理学
- 儿科瘤学 儿科瘤学
背景情况:
- 2021年世界卫生组织 (WHO) 中枢神经系统 (CNS) 瘤分类综合分子分析.
- PLAG家族的变化定义了特定的中枢神经系统实体,主要是胚胎瘤,此前在中枢神经系统胚胎瘤中报告了PLAG1融合,但不是 supratentorial神经皮质瘤.
- 常规分子分析,包括DNA甲基化研究,对于准确的中枢神经系统瘤分类至关重要.
研究的目的:
- 报告了两个儿科的 supratentorial 结尾瘤与新的 PLAG1 融合.
- 通过组织学,免疫组织化学,RNA测序和DNA甲基化概况来表征这些瘤.
- 为了确定这些病例是否符合现有的2021年世卫组织中枢神经系统分类实体或之前描述的PLAG家族改变的瘤.
主要方法:
- 组织病理学检查和免疫组织化学 (GFAP,H3K27me3,EMA,L1CAM,ATRX等). ) 的情况.
- 通过RNA测序 (RNA-seq) 来识别基因融合 (TNC::PLAG1,TXNIP::PLAG1).
- 用DNA甲基化分析来评估瘤分类.
主要成果:
- 确定了两种小儿 supratentorial 末端瘤,具有新的 TNC::PLAG1 和 TXNIP::PLAG1 融合.
- 组织学和分子数据与2021年建立的世卫组织中枢神经系统实体或其他PLAG家族改变的瘤不一致.
- 第1个案例的DNA甲基化与脊柱子瘤聚集在一起;第2个案例的甲基化没有达到一个类值.
- 两位患者在切割后4个月和8个月没有辅助治疗的情况下都活着.
结论:
- 这些病例代表了儿科 supratentorial 末端瘤中首次报告的 PLAG1 融合,以及任何瘤类型中首次出现的 TNC::PLAG1 和 TXNIP::PLAG1 融合.
- 这些发现表明,一种潜在的新亚型的 supratentorial 末端瘤,以 PLAG1 融合为特征.
- 组织学,甲基化和融合检测的综合分析对于中枢神经系统瘤的诊断和分类非常有价值.
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