关键词: Biomarker DNA-methylation profiling Glioblastoma Glioma Oligodendroglioma

Mesh : Astrocytoma / pathology Biology Brain Neoplasms / diagnosis genetics therapy Chromosomes, Human, Pair 1 DNA Glioblastoma / genetics pathology therapy Glioma / pathology Humans Isocitrate Dehydrogenase / genetics Methylation Mutation Oligodendroglioma / diagnosis genetics therapy

来  源:   DOI:10.1007/s10014-021-00423-0

Abstract:
Here, we report on a patient presenting with two histopathologically distinct gliomas. At the age of 42, the patient underwent initial resection of a right temporal oligodendroglioma IDH mutated 1p/19q co-deleted WHO Grade II followed by adjuvant radiochemotherapy with temozolomide. 15 months after initial diagnosis, the patient showed right hemispheric tumor progression and an additional new left frontal contrast enhancement in the subsequent imaging. A re-resection of the right-sided tumor and resection of the left frontal tumor were conducted. Neuropathological work-up showed recurrence of the right-sided oligodendroglioma with features of an anaplastic oligodendroglioma WHO Grade III, but a glioblastoma WHO grade IV for the left frontal lesion. In depth molecular profiling revealed two independent brain tumors with distinct molecular profiles of anaplastic oligodendroglioma IDH mutated 1p/19q co-deleted WHO Grade III and glioblastoma IDH wildtype WHO grade IV. This unique and rare case of a patient with two independent brain tumors revealed by in-depth molecular work-up and epigenomic profiling emphasizes the importance of integrated work-up of brain tumors including methylome profiling for advanced patient care.
摘要:
这里,我们报道了一名患者出现两个组织病理学上不同的神经胶质瘤。在42岁时,该患者接受了右颞叶少突胶质细胞瘤IDH突变的1p/19q共同删除的WHOII级切除,然后接受替莫唑胺辅助放化疗。初次诊断后15个月,患者在随后的成像中显示出右半球肿瘤进展和新的左额叶对比增强.进行右侧肿瘤的再切除和左额叶肿瘤的切除。神经病理学检查显示右侧少突胶质细胞瘤复发,具有WHOIII级间变性少突胶质细胞瘤的特征,但是左额病变的胶质母细胞瘤WHOIV级。深入的分子谱分析显示了两个独立的脑肿瘤,具有不同的间变性少突胶质细胞瘤IDH突变的1p/19q共同删除的WHOIII级和胶质母细胞瘤IDH野生型WHOIV级的分子谱。通过深入的分子检查和表观基因组分析揭示了具有两个独立脑肿瘤的患者的这种独特且罕见的病例,强调了脑肿瘤综合检查的重要性,包括高级患者护理的甲基化组分析。
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