Spinal cord tumours: advances in genetics and their implications for treatment

Abstract

Tumours of the spinal cord, although rare, are associated with high morbidity. Surgical resection remains the primary treatment for patients with this disease, and offers the best chance for cure. Such surgical procedures, however, carry substantial risks such as worsening of neurological deficit, paralysis and death. New therapeutic avenues for spinal cord tumours are needed, but genetic studies of the molecular mechanisms governing tumourigenesis in the spinal cord are limited by the scarcity of high-quality human tumour samples. Many spinal cord tumours have intracranial counterparts that have been extensively studied, but emerging data show that the tumours are genetically and biologically distinct. The differences between brain and spine tumours make extrapolation of data from one to the other difficult. In this Review, we describe the demographics, genetics and current treatment approaches for the most commonly encountered spinal cord tumours--namely, ependymomas, astrocytomas, haemangioblastomas and meningiomas. We highlight advances in understanding of the biological basis of these lesions, and explain how the latest progress in genetics and beyond are being translated to improve patient care.

Figure 1

Surgery and imaging in spinal cord astrocytoma. a–c | Intraoperative images showing the excision of a diffuse intramedullary astrocytoma in the spinal cord from a posterior approach. The spinal cord appears enlarged, and the surgical approach begins with a midline myelotomy to separate the dorsal columns (a). The tumour is then exposed and excised via careful dissection (b). Gliosis and hyperaemia can be seen in the resection cavity (c). d, e | Preoperative sagittal (d) and axial (e) T2-weighted MRI reveal hyperintensity and expansion of the spinal cord.

Figure 2

Surgery and imaging in spinal cord ependymoma. a, b | Intraoperative pictures show the tan-coloured tissue that is often seen with ependymomas (arrow; a), and a resection cavity after tumour removal (b). c, d | Preoperative sagittal (c) and axial (d) T2-weighted MRI of thoracic ependymoma demonstrating a space-occupying lesion that is hyperintense to the cord in the thoracic spine. The lesion causes marked cord displacement on axial view; the cord can be seen as a hypointense sliver of tissue (arrow; d).

Figure 3

Surgical and preoperative imaging of haemangioblastoma in the cervical spine. a | Sagittal postcontrast T1-weighted MRI shows a well-defined lesion (arrow) in the spinal cord at C2–C3. b | 3D CT angiogram reconstruction demonstrating a large vascular lesion (arrow). c | As haemangioblastomas are richly vascular, direct arterial injection can facilitate preoperative imaging, surgical planning, and preoperative embolization. Image depicts filling of ipsilateral vertebral artery and subsequent tumour filling. d | Intraoperative image of haemangioblastoma. Permission obtained from American Association of Neurological Surgeons © Sciubba, D. M. et al. J. Neurosurg. Spine 5, 96–100 (2006).

Figure 4

Surgery and imaging of spinal cord meningioma. a, b | Intraoperative images showing pre-exposure (a) and postexposure (b) of a spinal meningioma. c, d | Coronal (c) and axial (d) postgadolinium MRI demonstrating a cervical extramedullary meningioma (arrows) with avid enhancement.