Beijing Neurosurgical Institute, Capital Medical University, Beijing, China; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Eur J Neurol. 2015 Feb;22(2):348-54. doi: 10.1111/ene.12578. Epub 2014 Oct 16.
A brain tumor's location is associated with the genetic profile of its tumor precursor cells. Mutations in isocitrate dehydrogenase 1 (IDH1) are an early event in tumor development and play a critical role in gliomagenesis. This study was conducted to specify the anatomical characteristics of IDH1 mutation in low-grade gliomas and to further explore the origin of gliomas with IDH1 mutation. The impact of IDH1 mutation on disease prognosis was also evaluated.
The pre-operative magnetic resonance images obtained from 146 patients with histologically confirmed low-grade glioma were analyzed retrospectively. All tumors were manually marked and registered to the standard location. Voxel-based lesion-symptom mapping analysis was used to identify brain regions associated with a high occurrence of IDH1 mutation. Progression-free survival and overall survival were estimated using the Kaplan-Meier method, and potential prognostic factors were evaluated using the multivariate proportional hazards model.
Isocitrate dehydrogenase 1 mutated low-grade gliomas occurred most frequently in the frontal lobe, and specifically in the area surrounding the rostral extension of the lateral ventricles. Additionally, it was demonstrated that IDH1 mutation was an independent predictor for longer progression-free survival and overall survival.
Low-grade gliomas with IDH1 mutation are region-specific and preferentially located surrounding the rostral extension of the lateral ventricles. Furthermore, such mutations are associated with a favorable clinical outcome.
脑瘤的位置与肿瘤前体细胞的基因谱有关。异柠檬酸脱氢酶 1（IDH1）突变是肿瘤发生的早期事件，在神经胶质瘤发生中起着关键作用。本研究旨在明确 IDH1 突变在低级别胶质瘤中的解剖特征，并进一步探讨 IDH1 突变型胶质瘤的起源。同时评估 IDH1 突变对疾病预后的影响。
回顾性分析 146 例经组织学证实的低级别胶质瘤患者的术前磁共振图像。手动标记所有肿瘤并注册到标准位置。采用基于体素的病变-症状映射分析识别 IDH1 突变高发生率相关的脑区。使用 Kaplan-Meier 法估计无进展生存率和总生存率，并使用多变量比例风险模型评估潜在的预后因素。
IDH1 突变的低级别胶质瘤最常发生于额叶，特别是侧脑室额角延伸区域周围。此外，研究表明 IDH1 突变是无进展生存率和总生存率延长的独立预测因素。
IDH1 突变的低级别胶质瘤具有特定的区域分布特征，优先发生于侧脑室额角延伸区域周围。此外，此类突变与良好的临床预后相关。
