Brain regions associated with telomerase reverse transcriptase promoter mutations in primary glioblastomas
Brain regions associated with telomerase reverse transcriptase promoter mutations in primary glioblastomas
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DOI：
10.1007/s11060-016-2132-y
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发表时间：
2016-07-01
影响因子：
3.9
通讯作者：
Jiang, Tao
中科院分区：
文献类型：
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作者：
Fan, Xing;Wang, Yinyan;Jiang, Tao
人类端粒酶逆转录酶（TERT）启动子突变是多种人类恶性肿瘤（包括胶质瘤）中重要的遗传改变。本研究旨在探讨恶性胶质瘤（GBMs）中TERT启动子突变的解剖学特异性。回顾203例GBMs患者的临床资料及术前磁共振图像。所有病例均采用Sanger测序评估TERT启动子突变状态。肿瘤病变被手工分割，然后注册到一个标准的脑图谱。然后通过基于体素的回归分析确定与TERT启动子突变状态相关的特定大脑区域。203例患者中有94例（46.3%）检测到TERT启动子突变。基于体素的统计分析表明，TERT启动子突变的GBMs更有可能位于右侧颞叶，而TERT启动子野生型的GBMs更有可能发生在右侧侧脑室前部。两组在t2鉴别肿瘤的病变体积及增强区无明显差异。目前的研究证实了GBM中TERT启动子突变状态的解剖学特异性。这些发现可能为GBM的分子分类提供新的见解，并进一步了解肿瘤特异性分子改变与肿瘤位置之间的关系。
Human telomerase reverse transcriptase (TERT) promoter mutations are important genetic alterations in many kinds of human malignancies, including glioma. The current study aimed to investigate the anatomical specificity of TERT promoter mutations in glioblastomas (GBMs). Clinical information and preoperative magnetic resonance images of 203 patients with GBMs were reviewed. TERT promoter mutation status was assessed by Sanger sequencing in all cases. Tumor lesions were manually segmented and then registered to a standard brain atlas. Then the specific brain regions associated with TERT promoter mutation status were subsequently identified by voxel-based regression analysis. TERT promoter mutations were detected in 94 (46.3 %) of the 203 patients. Voxel-based statistical analysis demonstrated that GBMs with TERT promoter mutations were much more likely to locate in the right temporal lobe, while those with wild-type TERT promoters were more likely to occur in the anterior region of the right lateral ventricle. No significant difference was found in the lesion volumes of the T2-identified tumor or in the contrast enhancement areas between the two groups. The current study demonstrated the anatomic specificity of TERT promoter mutation status in GBM. These findings may provide new insight into the molecular classification of GBM and further our understanding of the associations between tumor-specific molecular alterations and tumor location.