病例报告:在成年人中发生的罕见的内腔室内H3 K27变异的扩散性中线质瘤
Merari Jasso1, Jay-Jiguang Zhu1, Meenakshi B Bhattacharjee2
1The Vivian L. Smith Department of Neurosurgery, McGovern Medical School at The University of Texas Health Science Center at Houston, Houston, TX, United States.
Frontiers in oncology
|April 4, 2025
概括
本病例报告详细介绍了一个罕见的成年人H3 K27-Altered Diffuse Midline Glioma病例,该病例出现在侧腔室. 尽管进行了积极的治疗,但患者的预后不佳,这凸显了在成人中管理这种积极的儿科脑瘤的挑战.
科学领域:
- 神经瘤学神经瘤学
- 儿科病理学 儿科病理学
- 分子诊断学 分子诊断
背景情况:
- H3 K27-改变的扩散性中线质瘤 (DMGs) 通常影响儿童和青少年的中线大脑结构.
- 成年人发病和侧腔室参与是这些侵略性瘤的异常罕见表现.
- 目前的治疗方法有效性有限,平均存活时间为8-12个月.
研究的目的:
- 介绍一个罕见的成人病例,诊断为心室内H3 K27-Altered Diffuse Midline Glioma. 这是一个罕见的病例.
- 为了突出这种不寻常的呈现的临床,放射学,病理学和分子特征.
- 讨论这种罕见的瘤类型的成年患者的管理挑战和结果.
主要方法:
- 病例报告是一名24岁的男性,患有逐渐恶化的头痛和记忆障碍.
- 诊断成像包括CT和MRI,揭示了心室内质量和脑水.
- 对21个先前报告的H3 K27-Altered DMGs成年病例的文献综述.
主要成果:
- 这名患者被诊断为心室内H3 K27-Altered扩散型中线质瘤.
- 治疗包括切除术,激光间歇性热切除术 (LITT),化疗放射治疗,贝瓦西祖马布和ONC206.
- 尽管最初的瘤减少,但疾病进展,导致诊断后10个月死亡. 文献综述显示,类似成人病例的中位生存期为10.5个月.
结论:
- 这一案例强调了成年人内腔室内H3 K27-Altered DMGs的罕见性.
- 积极的多式疗法表现出有限的成功,强调需要新的治疗策略.
- 进一步的研究对于改善这种破坏性诊断的成年患者的治疗结果至关重要.
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