Spinal cord hemangioblastoma : diagnosis and clinical outcome after surgical treatment

Abstract

Objective: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

Keywords: Hemangioblastoma; Mutation analysis; Von Hippel-Lindau disease.

Fig. 1

Preoperative magnetic resonance imaging (MRI) : T2-weighted sagittal image (A) showing a hyperintense lesion with spinal cord swelling from lower medulla to T2-3 level. Gadolinium-enhanced sagittal image (B) reveals well enhancing mass, approximately 1 cm diameter at the C5 spinal cord level. Preoperative right vertebral angiography (C) demonstrates hypervascular tumor staining fed by the ascending cervical artery of right thyrocervical trunk. Postoperative MRI : T2-weighted sagittal image (D) shows a marked diminution of the hyperintense lesion that existed previously in the preoperative MRI. The swelling of the cervical cord was nearly disappeared.

Fig. 2

Sequencing results of von Hippel-Lindau gene mutations analysis identified in the present study. A : Insertion T in exon 1 of the VHL gene (c.223_224insT), resulting in a frame-shift mutation (p.Ile75Tyrfs×57). B : A heterozygous A to T transversion in exon 3 of the VHL gene (c.586A>T), resulting in a Lys196X nonsense mutation.