Large-cell medulloblastoma in Aicardi syndrome.: Case report and literature review
Large-cell medulloblastoma in Aicardi syndrome.: Case report and literature review
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DOI：
10.1055/s-2004-821253
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发表时间：
2004-10-01
期刊：
影响因子：
1.4
通讯作者：
Kyllerman, M
中科院分区：
文献类型：
--
作者：
Palmér, L;Nordborg, C;Kyllerman, M
一个八岁的女孩患有AIC综合征（AIC），出现颅内压升高的迹象。临床和放射学检查发现后颅窝有一个肿瘤，已切除。组织病理学诊断为大细胞髓母细胞瘤。八个月后，她死于局部复发，尽管根据PNET方案进行了化疗和放疗。除了在原发肿瘤位置生长的大细胞髓母细胞瘤和肿瘤的脑膜扩散外，尸检还发现大脑的主要皮质和皮质下畸形。各种良性（例如，血管丛乳头状瘤）和恶性肿瘤（血管肉瘤、胚胎癌和肝母细胞瘤）已被报道与Apriodi综合征有关。AIC的遗传分析表明，突变位于X染色体短臂的远端部分，这是一个可能对肿瘤发展至关重要的区域。这是第一次报告的原发性恶性脑肿瘤-大细胞髓母细胞瘤-在患者的阿卡迪综合征。
An eight-year-old girl with Aicardi syndrome (AIC) developed signs of increased intracranial pressure. A clinical and radiological investigation revealed a tumor in the posterior fossa, which was resected. The histopathological diagnosis was large-cell medulloblastoma. Eight months later, she died of a local recurrence, despite treatment with chemotherapy and radiotherapy according to a PNET protocol. In addition to the growth of a large-cell medulloblastoma at the location of the primary tumor and the meningeal spread of the tumor, the autopsy revealed major cortical and subcortical malformations of the brain. Various benign (e.g., plexus papillomas) and malignant tumors (angiosarcoma, embryonic carcinoma, and hepatoblastoma) have been reported in connection with Aicardi syndrome. A genetic analysis of AIC suggests that the mutation is localized on the distal part of the short arm of the X chromosome, an area that may be of importance for tumor development. This is the first report of a primary malignant brain tumor - large-cell medulloblastoma - in a patient with Aicardi syndrome.