青少年胶质母细胞瘤伴少突胶质瘤成分(GBMO)1例

A. Rodrigues, Daniel Macedo do Nascimento, Eduarda de Carvalho Sato, Fernanda de Paula Moreira, Maitê Silva Martins Gadelha, Paula Cíntia Machado Sampaio, Tarsila Stockler Ravaschieri Martinoli, Yan Garcia Lira
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Magnetic resonance imaging of the brain revealed expansive tumour on left temporo-occipital lobe. Patient was submitted to intracranial exeresis, along with histopathological examination: glial neoplasm with areas of pleomorphism, hyperchromatism, anaplasia, foci of oligodendroglial component, perinuclear halo and ramified capillaries, resembling oligodendroglioma, necrosis and intense mitotic activity. The immunohistochemical analysis revealed positive Glial Fibrillary Acidic Protein (GFAP), synaptophysin, Ki-67 (MindBomb E3 ubiquitin protein ligase 1 – MIB-1)and hyperexpression of Epidermal Growth Factor Receptor (EGFR), indicating GBMO. Subsequently, Fluorescence in situ Hybridization (FISH) showed 1p/19q codeletion and Isocitrate Dehydrogenase 1 (IDH 1) mutation, suggesting an oligodendroglioma component. Tumour resection was total and symptoms disappeared. 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引用次数: 2

摘要

背景:具有少突胶质瘤成分的胶质母细胞瘤(GBMO)是最近分类的胶质母瘤亚型,具有不同的临床和预后结果,经常被误诊。胶质母细胞瘤和GBMO主要见于老年人,如生命的第5和第6个十年,在儿童或青少年中极为罕见,在男性患者中更为常见。病例报告:一名15岁女孩,有日常头痛史,止痛药不能缓解,呕吐,视力模糊和斜视。脑部核磁共振成像显示左侧颞枕叶有膨胀性肿瘤。患者接受颅内强化,同时进行组织病理学检查:神经胶质瘤,具有多形性、深染、间变性、少突胶质成分病灶、核周晕和毛细血管分支,类似少突胶质瘤、坏死和强烈的有丝分裂活性。免疫组织化学分析显示胶质纤维酸性蛋白(GFAP)、突触素、Ki-67(MindBomb E3泛素蛋白连接酶1–MIB-1)阳性,表皮生长因子受体(EGFR)高表达,表明GBMO。随后,荧光原位杂交(FISH)显示1p/19q共缺失和异柠檬酸脱氢酶1(IDH1)突变,提示少突胶质瘤成分。肿瘤切除全部,症状消失。之后,她开始用替莫唑胺进行辅助口服化疗。诊断后9个月完成治疗,没有更大的症状或并发症,病情完全缓解。结论:当面对由少突胶质细胞组成的恶性神经胶质瘤时,GBMO必须被视为一种可能的诊断,与年龄或类型无关。组织病理学检查后的坏死与中位总生存期较短密切相关。IDH突变和1p/19q共缺失应通过免疫组织化学进行分析。肿瘤全切除,辅以辅助治疗(替莫唑胺化疗和放疗),可增加获益并改善预后。
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Glioblastoma with Oligodendroglioma Component (GBMO) in an adolescent: a case report
Background:Glioblastoma with oligodendroglioma component (GBMO) is a recently classified subtype of glioblastoma, which carries different clinical and prognostic outcomes, being frequently misdiagnosed. Both glioblastoma and GBMO are mainly seen in older ages, such as the 5th and 6th decades of life, being an extremely rare occurrence in children or adolescents and more frequent in male patients.  Case report: A 15-year-old girl, presented with history of daily headache, not relieved by painkillers, vomiting, blurred vision and strabismus. Magnetic resonance imaging of the brain revealed expansive tumour on left temporo-occipital lobe. Patient was submitted to intracranial exeresis, along with histopathological examination: glial neoplasm with areas of pleomorphism, hyperchromatism, anaplasia, foci of oligodendroglial component, perinuclear halo and ramified capillaries, resembling oligodendroglioma, necrosis and intense mitotic activity. The immunohistochemical analysis revealed positive Glial Fibrillary Acidic Protein (GFAP), synaptophysin, Ki-67 (MindBomb E3 ubiquitin protein ligase 1 – MIB-1)and hyperexpression of Epidermal Growth Factor Receptor (EGFR), indicating GBMO. Subsequently, Fluorescence in situ Hybridization (FISH) showed 1p/19q codeletion and Isocitrate Dehydrogenase 1 (IDH 1) mutation, suggesting an oligodendroglioma component. Tumour resection was total and symptoms disappeared. Afterwards, she started adjuvant oral chemotherapy with temozolomide. Treatment was completed nine months after the diagnosis, with no greater symptoms or complications and complete remission.  Conclusion: GBMO must be considered as a possible diagnosis when confronted with a malignant glioma with oligodendroglial tumour component, independent of age or genre. Necrosis upon histopathological examination has a strong relation to shorter median overall survival. IDH mutation and 1p/19q codeletion should be analyzed by immunohistochemistry. Total tumour resection, with adjuvant treatment (chemotherapy with temozolomide and radiotherapy), increases benefits and improves prognosis.
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