Wang Joshua L, Hong Christopher S, Otero Jose, Puduvalli Vinay K, Elder J Bradley
College of Medicine, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
World Neurosurg. 2016 Dec;96:608.e1-608.e4. doi: 10.1016/j.wneu.2016.09.063. Epub 2016 Sep 23.
Gangliogliomas are rare, low-grade intra-axial tumors that exhibit both neuronal and glial components. Although the vast majority present as an intracranial lesion, a rare subset exist as isolated lesions of the spinal cord. Gangliogliomas have also been shown to harbor mutations in the p53 tumor suppressor gene and BRAF oncogene. Previous studies in ganglioglioma have correlated p53 mutations with histologic transformation and BRAF mutations with worse prognosis.
In this report, we describe a 35-year-old female who presented with multifocal ganglioglioma, involving both the conus medullaris and filum terminale. The dominant lesion in the filum terminale was resected, which revealed World Health Organization I grade, p53 mutant, and BRAF wildtype status. Our study documents the first report of a multifocal ganglioglioma, originating within the spinal cord.
Importantly, this case contradicts previous reports of p53 and BRAF mutations portending worsened tumor behavior and prognosis and demonstrates that further studies are needed to delineate the role of genetic characterization in the biologic understanding and management of gangliogliomas.
神经节胶质瘤是一种罕见的、低级别的轴内肿瘤，同时具有神经元和神经胶质成分。尽管绝大多数表现为颅内病变，但也有一小部分罕见病例表现为脊髓孤立性病变。神经节胶质瘤还被证明存在p53肿瘤抑制基因和BRAF癌基因的突变。先前关于神经节胶质瘤的研究表明，p53突变与组织学转化相关，BRAF突变与较差的预后相关。
在本报告中，我们描述了一名35岁女性，她患有多灶性神经节胶质瘤，累及脊髓圆锥和终丝。终丝上的主要病变被切除，结果显示为世界卫生组织I级、p53突变型和BRAF野生型。我们的研究记录了首例起源于脊髓的多灶性神经节胶质瘤。
重要的是，该病例与先前关于p53和BRAF突变预示肿瘤行为和预后恶化的报道相矛盾，并表明需要进一步研究来阐明基因特征在神经节胶质瘤生物学理解和治疗中的作用。
