长期存活的H3K27M突变脊髓和半球瘤:说明性的案例
Eva Liu1, Hsuan Ming Su1, Patrick Toyota1
1Division of Neurosurgery, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.
Journal of neurosurgery. Case lessons
|March 24, 2025
概括
本案例研究突出了一个罕见的成人发病的H3K27M改变的扩散性中线质瘤 (DMG),最初是在脊髓中发现的. 患者在治疗原发性和扩散性瘤后经历了长时间的存活.
科学领域:
- 神经瘤学神经瘤学
- 分子病理学分子病理学
- 中枢神经系统瘤 中枢神经系统瘤
背景情况:
- 由H3K27M突变改变的扩散中线质瘤 (DMG) 是2021年世卫组织中枢神经系统瘤分类中的一个独特实体.
- 儿科H3K27M改变的DMG通常呈现出不良的预后,平均存活时间为9-15个月.
- 成年人对H3K27M改变的DMG的预后更加可变,偶尔会有长期存活.
研究的目的:
- 报告一个罕见的成人发病的H3K27M改变的DMG病例.
- 描述脊髓DMG的临床过程和分子特征,以及随后的传播.
- 讨论这个案例对理解DMG异质性和预后的影响.
主要方法:
- 一个32岁的男性患有脊髓和叶质量的病例报告.
- 两个病变的手术切除.
- 组织病理学和分子分析证实H3K27M改变的质瘤.
- 手术后的辐射疗法.
- 临床后续情况.
主要成果:
- 在脊髓中诊断出H3K27M改变的脊髓中线质瘤 (T7-T10).
- 29个月后作为具有相似分子特征的叶质量的复发/扩散.
- 患者在两次切除后都接受了放射治疗.
- 在42个月的随访期间,长期存活,健康状况良好.
结论:
- 这种病例代表了一个罕见的成年开始的脊柱H3K27M改变的DMG与叶传播的例子.
- 这些发现表明,H3K27M改变的DMG可以表现出由瘤位置和患者年龄影响的可变预后.
- 改变H3K27M的DMG是异质的,需要对预后因素进行进一步的研究.
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