Definition
- Essential:
- Spinal tumour with morphological and immunohistochemical features of ependymoma AND
- MYCN amplification
- Desirable:
- DNA methylation profile aligned with spinal ependymoma, MYCN-amplified
- High-grade histopathological features
Numbers
- Rare type < 30 cases reported in the literature
- Median age of presentation 31 years
- Female predilection
Genetic
- MYCN. a member of the MYC family of proto-oncogenes encodes transcription factor that regulates the expression of genes involved in cell growth
Location
- Often (78% of cases) in the cervical or thoracic cord
Grade ?
- Awaiting grading from WHO
- High-grade histopathological features
- Poor prognosis
Pathology
- A well-demarcated tumour
Radiology
- Tumours tend to be large with cord infiltration spanning multiple vertebral levels.
- Primarily intramedullary and nodular extramedullary presentations have been reported, and diffuse leptomeningeal disease is typical
- MRI
- T1: most are isointense to hypointense;
- Mixed-signal lesions are seen if cyst formation, tumour necrosis or haemorrhage has occurred
- T2: hyperintense
- Peritumoural oedema is seen in 60% of cases
- Associated haemorrhage leads to the “cap sign” (a hypointense haemosiderin rim on T2 weighted images) in 20-33% of cases 5. The cap sign is suggestive of but not pathognomonic for ependymoma as it may also be seen in haemangioblastomas and paragangliomas
- T1 C+ (Gd): virtually all enhance strongly, somewhat inhomogeneously
Prognosis
- This tumour is aggressive with all reported patients suffering disease recurrence at follow-up despite intensive treatment
- Early metastasis
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