Department of Neurosurgery, Massachusetts General Hospital & Harvard Medical School, Boston, MA 02114, USA.
J Clin Neurosci. 2012 Jun;19(6):884-6. doi: 10.1016/j.jocn.2011.07.017. Epub 2011 Nov 17.
Cerebral cavernous malformations (CCM) are known to occur in both sporadic and familial forms. To date, there has been no identified association of CCM with glioblastoma multiforme. We present a 69-year-old woman with a 14 year history of multiple CCM who developed progressive aphasia. She had no radiation exposure and had only undergone a single computed tomography scan in her entire life. MRI demonstrated irregular gadolinium enhancement in the area of a prior stable CCM, suspicious for a high grade tumor. Stereotactic biopsy revealed a glioblastoma multiforme. This is a unique case of glioblastoma multiforme arising from the "site" of a known CCM. We review the literature on the genetics of cavernous malformations and propose a mechanism for the tumorigenic potential of these vascular malformations.
脑内海绵状血管畸形(CCM)已知可发生于散发性和家族性形式。迄今为止,尚未发现 CCM 与多形性胶质母细胞瘤之间存在关联。我们报告了一名 69 岁女性,她患有多发性 CCM,病史长达 14 年,出现进行性失语。她没有接受过放射治疗,一生中仅进行过一次计算机断层扫描。MRI 显示先前稳定的 CCM 区域存在不规则的钆增强,提示高级别肿瘤。立体定向活检显示为多形性胶质母细胞瘤。这是一个从已知 CCM“部位”发生的多形性胶质母细胞瘤的独特病例。我们回顾了关于海绵状血管畸形遗传学的文献,并提出了这些血管畸形的致瘤潜力的机制。