E. Petrova, L. V. Olkhova, S. A. Galstyan, E. N. Telysheva, O. Zheludkova, M. Ryzhova
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引用次数: 0
摘要
胶质母细胞瘤是属于中枢神经系统的恶性肿瘤,由于其瘤内异质性显著,因此诊断具有挑战性,这使得分子检测和诊断确认尤为困难。除了鉴别 IDH、H3F3A G34 和 K27 等典型基因突变外,世卫组织的建议还强调了分析肿瘤表观基因组的重要性,以根据 DNA 甲基化模式和特定基因组区域(尤其是 MGMT 启动子区域)的甲基化状态来确定其类别。根据我们的临床经验,由于胶质母细胞瘤细胞组成的异质性,分子遗传学研究有时会得出相互矛盾的结果。在本研究中,我们对 35 个胶质母细胞瘤样本进行了一系列观察,比较了形态学特征和基于总 DNA 甲基化图谱的解卷积法检测细胞类型的结果。我们的结果表明,间质类胶质母细胞瘤样本中可能含有 50% 以上的非肿瘤免疫细胞,在对这些肿瘤进行基因检测时应考虑到这一点。
Analysis of DNA methylation profiles confirms a high proportion of immune cells in glioblastoma samples
Glioblastomas are malignant tumors that belong to the central nervous system and are challenging to diagnose due to their significant intratumoral heterogeneity, which makes molecular testing and diagnosis confirmation particularly difficult. In addition to identifying typical genetic mutations such as IDH, H3F3A G34 and K27, WHO recommendations emphasize the importance of analyzing the tumor epigenome to define its class based on DNA methylation patterns and methylation status of specific genomic regions, particularly the MGMT promoter region. Based on our clinical experience, molecular genetic studies sometimes yield contradictory results due to the heterogeneous cellular composition of glioblastomas. In this study, we present a series of observations made on 35 glioblastoma samples in which we compare the morphological features and the results of cell type detection by deconvolution method based on total DNA methylation profiles. Our results suggest that samples of mesenchymal class glioblastomas may contain over 50 % non-tumor immune cells, which should be considered in genetic testing of these tumors.