Institute of Pathology, University Hospital Salzburg, Paracelsus Medical University, Müllner Hauptstr. 48, 5020, Salzburg, Austria.
Department of Neurosurgery, University Hospital Salzburg, Paracelsus Medical University, Ignaz-Harrer-Str. 79, 5020, Salzburg, Austria.
Brain Tumor Pathol. 2022 Apr;39(2):111-119. doi: 10.1007/s10014-021-00423-0. Epub 2022 Jan 11.
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.
在这里,我们报告了一例具有两种组织病理学明显不同的神经胶质瘤的患者。该患者 42 岁时,最初接受了右侧颞叶少突胶质细胞瘤 IDH 突变 1p/19q 共缺失 WHO 分级 II 型的切除术,随后接受了替莫唑胺辅助放化疗。初始诊断后 15 个月,患者出现右侧半球肿瘤进展,并在随后的影像学检查中出现左侧额部新的对比增强。对右侧肿瘤和左侧额叶肿瘤进行了再次切除。神经病理学检查显示右侧少突胶质细胞瘤复发,具有间变性少突胶质细胞瘤的特征,WHO 分级 III,但左侧额叶病变为胶质母细胞瘤,WHO 分级 IV。深入的分子分析显示,这是两个具有独特分子特征的独立脑肿瘤,分别为 IDH 突变 1p/19q 共缺失 WHO 分级 III 型的间变性少突胶质细胞瘤和 IDH 野生型 WHO 分级 IV 型的胶质母细胞瘤。深入的分子分析和表观基因组分析揭示了这例具有两个独立脑肿瘤的独特而罕见的病例,强调了包括甲基组谱分析在内的脑肿瘤综合检查对于高级别患者护理的重要性。