儿科和青少年/年轻成人高度结质瘤具有成人类型分子特征
Jyotsna Singh1, Supriya Bhardwaj1, Swati Singh1
1Neuropathology Laboratory, Neurosciences Centre, All India Institute of Medical Sciences, New Delhi, India.
Pathology international
|January 27, 2026
概括
儿童和年轻成年人高度质瘤 (HGGs) 的很大一部分显示成年人的分子形状. DNA甲基化分析对于准确诊断和识别这些年轻患者的可针对性改变至关重要.
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:
- 儿科和青少年/年轻成人 (AYA) 患者的高度质瘤 (HGG) 是不同的.
- 虽然大多数HGGs具有儿科分子特征,但有些存在成人类型的DNA甲基化配置文件,影响诊断和治疗.
- 当前的诊断方法可能无法完全捕捉到这种分子异质性.
研究的目的:
- 在0-39岁的患者中调查HGG中成人类型分子谱的流行率和特征.
- 评估全基因组DNA甲基化分析在完善诊断和确定该年龄组治疗点中的实用性.
主要方法:
- 60个HGG,NOS病例 (年龄在0-39岁) 的回顾分析.
- 使用两个独立的大脑瘤分类器进行全基因组DNA甲基化分析.
- 副本数量分析和目标下一代测序.
- 结合表观遗传特征与组织病理学,最终诊断.
主要成果:
- 在23.3% (14/60) 的病例中发现了成人类型的分子谱.
- 其中5例成人类型病例 (35.7%) 发生在18岁或以下的患者中.
- 常见的变化包括NF1 (87.5%),PTEN (62.5%) 和TERT促进器突变 (25%).
结论:
- 儿科和AYA HGG的大量子集表现出成人分子特征,挑战基于年龄的诊断规范.
- 传统的组织病理学和免疫组织化学在分类这些HGG方面存在局限性.
- 基因组甲基化分析对于准确诊断,揭示可针对性改变和改善患者管理至关重要.
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