Dang Huy, Khan Abdul Basit, Gadgil Nisha, Prablek Marc, Lin Frank Y, Blessing Melissa M, Aldave Guillermo, Bauer David
Department of Neurosurgery, Baylor College of Medicine, Houston, United States.
Department of Neurosurgery, Baylor College of Medicine/Texas Children's Hospital, Houston, United States.
Surg Neurol Int. 2023 Feb 17;14:55. doi: 10.25259/SNI_825_2022. eCollection 2023.
Gangliogliomas (GGs) are rare tumors of the central nervous system composed of neoplastic neural and glial cells and are typically low-grade. Intramedullary spinal anaplastic GGs (AGG) are rare, poorly understood, and often aggressive tumors that can result in widespread progression along the craniospinal axis. Due to the rarity of these tumors, data are lacking to guide clinical and pathologic diagnosis and standard of care treatment. Here, we present a case of pediatric spinal AGG to provide information on our institutional approach to work-up and to highlight unique molecular pathology.
A 13-year-old female presented with signs of spinal cord compression including right sided hyperreflexia, weakness, and enuresis. Magnetic resonance imaging (MRI) revealed a C3-C5 cystic and solid mass which was treated surgically with osteoplastic laminoplasty and tumor resection. Histopathologic diagnosis was consistent with AGG, and molecular testing identified mutations in (K27M), , and . She received adjuvant radiation therapy and her neurological symptoms improved. However, at 6-month follow-up, she developed new symptoms. MRI revealed metastatic recurrence of tumor with leptomeningeal and intracranial spread.
Primary spinal AGGs are rare tumors, but a growing body of literature shows some trends that may improve diagnosis and management. These tumors generally present in adolescence and early adulthood with motor/sensory impairment and other spinal cord symptoms. They are most commonly treated by surgical resection but frequently recur due to their aggressive nature. Further reports of these primary spinal AGGs along with characterization of their molecular profile will be important in developing more effective treatments.
神经节胶质瘤（GGs）是中枢神经系统的罕见肿瘤，由肿瘤性神经细胞和神经胶质细胞组成，通常为低级别肿瘤。脊髓内间变性GGs（AGG）罕见，了解较少，且往往具有侵袭性，可导致沿颅脊髓轴广泛进展。由于这些肿瘤罕见，缺乏指导临床和病理诊断及标准治疗的资料。在此，我们报告一例儿童脊髓AGG病例，以介绍我们机构的检查方法，并突出其独特的分子病理学特征。
一名13岁女性出现脊髓受压症状，包括右侧反射亢进、无力和遗尿。磁共振成像（MRI）显示C3 - C5节段有一个囊实性肿块，通过骨成形性椎板成形术和肿瘤切除术进行了手术治疗。组织病理学诊断与AGG一致，分子检测发现（K27M）、 和 存在突变。她接受了辅助放疗，神经症状有所改善。然而，在6个月的随访中，她出现了新症状。MRI显示肿瘤转移复发，伴有软脑膜和颅内扩散。
原发性脊髓AGG是罕见肿瘤，但越来越多的文献显示出一些可能改善诊断和管理的趋势。这些肿瘤通常在青少年和成年早期出现，伴有运动/感觉障碍和其他脊髓症状。它们最常通过手术切除治疗，但由于其侵袭性往往会复发。进一步报告这些原发性脊髓AGG及其分子特征对于开发更有效的治疗方法将具有重要意义。
