Das Sumit, Yip Stephen, Hukin Juliette, Cochrane Douglas, Dunham Christopher
Clin Neuropathol. 2014 May-Jun;33(3):190-6. doi: 10.5414/NP300689.
Pleomorphic xanthoastrocytoma (PXA) is a rare slow-growing neoplasm that has predilection for the supratentorial compartment and the temporal lobe. Children and young adults are most frequently affected and they usually present with medically refractory seizures. PXAs involving the spinal cord have been rarely documented. We describe a 15-year-old boy who presented with shoulder/neck pain and upper extremity numbness/weakness. Neuroimaging revealed a solid, contrast enhancing, and intramedullary C5 - C6 mass. Microscopy demonstrated a typical WHO grade II PXA. Molecular testing did not reveal a BRAF V600E, IDH1 R132H, or IDH2 R172H mutation. Two years after a near total resection, significant tumor progression was noted via neuroimaging. To the authors' knowledge, this is the first description of the molecular characteristics of a spinal cord PXA.
多形性黄色星形细胞瘤（PXA）是一种罕见的生长缓慢的肿瘤，好发于幕上腔和颞叶。儿童和年轻人最常受累，通常表现为药物难治性癫痫发作。累及脊髓的PXA鲜有文献记载。我们报告一名15岁男孩，表现为肩/颈部疼痛和上肢麻木/无力。神经影像学检查显示脊髓内C5 - C6水平有一个实性、强化的肿块。显微镜检查显示为典型的世界卫生组织（WHO）II级PXA。分子检测未发现BRAF V600E、IDH1 R132H或IDH2 R172H突变。在近乎全切术后两年，神经影像学检查发现肿瘤有显著进展。据作者所知，这是对脊髓PXA分子特征的首次描述。
