Na Joon Ho, Kim Hyeong Soo, Eoh Whan, Kim Jong Hyun, Kim Jong Soo, Kim Eun-Sang
Department of Neurosurgery , Samsung Medical Center, Sungkyunkwan University, School of Medicine, Seoul, Korea.
J Korean Neurosurg Soc. 2007 Dec;42(6):436-40. doi: 10.3340/jkns.2007.42.6.436. Epub 2007 Dec 20.
Spinal cord hemangioblastoma is an uncommon vascular neoplasm with a benign nature and is associated with von Hippel-Lindau (VHL) disease in 20-30% of patients. Total removal of these tumors without significant neurological deficit remains a great challenge. The purpose of this study was to investigate the efficacy of VHL mutation analysis and to evaluate surgical outcome of patients with spinal cord hemangioblastomas.
This study included nine patients treated for spinal cord hemangioblastomas at our institute between December 1994 and March 2006. There were four male and five female patients. Mean age was 37.8 years. The mean follow-up period was 22.4 months. Magnetic resonance imaging (MRI) of the complete neuraxis was done in all cases and VHL mutation analysis was performed in three cases for a definite diagnosis.
Six patients had intramedullary tumor, and the remaining patients had intradural extramedullary lesions. Five patients were associated with VHL disease. The von Hippel-Lindau mutation analysis was done in three patients and two of them showed VHL gene abnormality. Tumors were located in the cervical cord in five cases and in the thoracic cord in four cases. All patients underwent surgical intervention, and total removal was achieved in six cases. All patients showed improvement or, at least, clinically stationary state. Surgical complications did not develop in any cases.
Spinal hemangioblastoma in this series has been safely and effectively removed via a posterior approach. Postoperatively, clinical outcome was excellent in the majority of cases. The VHL mutation analysis was useful in patients with family history and in those with multiple hemangioblastomas.
脊髓血管母细胞瘤是一种罕见的良性血管性肿瘤,20% - 30%的患者与冯·希佩尔 - 林道(VHL)病相关。在不造成明显神经功能缺损的情况下完全切除这些肿瘤仍然是一项巨大挑战。本研究的目的是探讨VHL突变分析的有效性,并评估脊髓血管母细胞瘤患者的手术结果。
本研究纳入了1994年12月至2006年3月间在我院接受治疗的9例脊髓血管母细胞瘤患者。其中男性4例,女性5例。平均年龄为37.8岁。平均随访期为22.4个月。所有病例均进行了全神经轴的磁共振成像(MRI)检查,3例进行了VHL突变分析以明确诊断。
6例患者为髓内肿瘤,其余患者为硬脊膜内髓外病变。5例患者与VHL病相关。对3例患者进行了冯·希佩尔 - 林道突变分析,其中2例显示VHL基因异常。肿瘤位于颈髓5例,胸髓4例。所有患者均接受了手术干预,6例实现了完全切除。所有患者均有改善或至少处于临床稳定状态。未发生任何手术并发症。
本系列中的脊髓血管母细胞瘤通过后路手术已安全有效地切除。术后,大多数病例的临床结果良好。VHL突变分析对有家族史和多发性血管母细胞瘤的患者有用。