PDF(Pubmed)
Abstract：
UNASSIGNED: Glioblastomas can manifest as multiple, simultaneous, noncontiguous lesions. We genetically analyzed multiple glioblastomas and discuss their etiological origins in this report.
UNASSIGNED: We present the case of a 47-year-old woman who presented with memory impairment and left partial paralysis. Radiographic imaging revealed three apparently noncontiguous lesions in the right temporal and parietal lobes extending into the corpus callosum, leading to diagnosis of multicentric glioblastomas. All three lesions were excised. Genetic analysis of the lesions revealed a TERT promoter C228T mutation, a roughly equivalent amplification of EGFR, and homozygous deletion of CDKN2A/B exclusively in the two contrast-enhanced lesions. Additionally, the contrast-enhanced lesions exhibited the same two-base pair mutations of PTEN, whereas the non-enhanced lesion showed a partially distinct 13-base pair mutation. The other genetic characteristics were consistent. Rather than each having arisen de novo, we believe that they had developed by infiltration and are therefore best classified as multifocal glioblastomas.
UNASSIGNED: Our findings underscore anew the possibility of infiltration by glioblastomas, even within regions devoid of signal alterations on T2-weighted images or fluid-attenuated inversion recovery images. Genetic analysis can play a crucial role in differentiating whether multiple glioblastomas are multifocal or multicentric.
UNASSIGNED: We present the case of a 47-year-old woman who presented with memory impairment and left partial paralysis. Radiographic imaging revealed three apparently noncontiguous lesions in the right temporal and parietal lobes extending into the corpus callosum, leading to diagnosis of multicentric glioblastomas. All three lesions were excised. Genetic analysis of the lesions revealed a TERT promoter C228T mutation, a roughly equivalent amplification of EGFR, and homozygous deletion of CDKN2A/B exclusively in the two contrast-enhanced lesions. Additionally, the contrast-enhanced lesions exhibited the same two-base pair mutations of PTEN, whereas the non-enhanced lesion showed a partially distinct 13-base pair mutation. The other genetic characteristics were consistent. Rather than each having arisen de novo, we believe that they had developed by infiltration and are therefore best classified as multifocal glioblastomas.
UNASSIGNED: Our findings underscore anew the possibility of infiltration by glioblastomas, even within regions devoid of signal alterations on T2-weighted images or fluid-attenuated inversion recovery images. Genetic analysis can play a crucial role in differentiating whether multiple glioblastomas are multifocal or multicentric.
摘要：
■胶质母细胞瘤可以表现为多发性，同时,非邻接病变。我们在本报告中对多个胶质母细胞瘤进行了基因分析，并讨论了它们的病因。
■我们介绍了一名47岁女性的病例，她表现为记忆障碍并留下部分瘫痪。影像学检查显示，右侧颞叶和顶叶有三个明显不连续的病变，延伸到call体，导致多中心胶质母细胞瘤的诊断。切除所有三个病变。病变的遗传分析显示TERT启动子C228T突变，大致相当的EGFR扩增，和CDKN2A/B的纯合缺失仅在两个对比增强病变中。此外,对比增强的病变表现出相同的PTEN双碱基对突变，而未增强的病变显示出部分明显的13个碱基对突变。其他遗传特征一致。而不是每个人都从头出现，我们认为它们是通过浸润发展的,因此最好归类为多灶性胶质母细胞瘤.
■我们的发现再次强调了胶质母细胞瘤浸润的可能性，即使在T2加权图像或流体衰减反转恢复图像上没有信号变化的区域内。遗传分析在区分多发性胶质母细胞瘤是多灶性还是多中心性中起着至关重要的作用。
■我们介绍了一名47岁女性的病例，她表现为记忆障碍并留下部分瘫痪。影像学检查显示，右侧颞叶和顶叶有三个明显不连续的病变，延伸到call体，导致多中心胶质母细胞瘤的诊断。切除所有三个病变。病变的遗传分析显示TERT启动子C228T突变，大致相当的EGFR扩增，和CDKN2A/B的纯合缺失仅在两个对比增强病变中。此外,对比增强的病变表现出相同的PTEN双碱基对突变，而未增强的病变显示出部分明显的13个碱基对突变。其他遗传特征一致。而不是每个人都从头出现，我们认为它们是通过浸润发展的,因此最好归类为多灶性胶质母细胞瘤.
■我们的发现再次强调了胶质母细胞瘤浸润的可能性，即使在T2加权图像或流体衰减反转恢复图像上没有信号变化的区域内。遗传分析在区分多发性胶质母细胞瘤是多灶性还是多中心性中起着至关重要的作用。
