A spinal cord ependymoma is a type of spinal cord tumour made up of ependymal cells, which normally line the fluid-filled spaces inside the brain and spinal cord. These tumours grow within the spinal cord itself (intramedullary) and can occur anywhere along its length, although they are most often found in the cervical (neck) or upper thoracic (chest) regions.
Spinal ependymomas tend to be slow-growing and well-defined, meaning they can often be separated from the surrounding spinal cord tissue during surgery. However, because they occur inside the spinal cord, even a small tumour can cause significant symptoms by pressing on nearby nerve pathways.
The symptoms of a spinal cord ependymoma depend on the tumour’s size and location within the spinal cord. Most people develop gradually progressive symptoms, such as:
Back or neck pain that may worsen over time
Weakness, numbness, or tingling in the arms or legs
Difficulty walking or balancing
Bladder or bowel changes, such as incontinence or retention
These symptoms occur because the tumour interferes with how signals travel through the spinal cord.
In most cases, the cause of a spinal cord ependymoma is unknown. These tumors are usually not inherited, although they can occur more often in people with a condition called neurofibromatosis type 2 (NF2), which is caused by a change in a gene on chromosome 22.
Most spinal ependymomas arise sporadically (by chance) and show changes in the NF2 gene and loss of chromosome 22 within the tumour cells. These are changes in the tumour only and are not passed down to children.
Spinal ependymomas can form anywhere along the spinal cord but are most common in the cervical and cervicothoracic regions. They usually grow inside the spinal cord rather than outside it. On MRI scans, they appear as a mass that enhances with contrast and may have small areas of fluid (cysts), old bleeding, or calcium deposits.
The diagnosis of spinal ependymoma combines information from imaging, microscopic examination, and molecular studies.
Imaging: MRI scans show a well-defined tumour located inside the spinal cord. The tumour usually appears bright on T2-weighted images and enhances after contrast injection. A fluid-filled cavity (syrinx) may form above or below the tumour.
Microscopic examination: The diagnosis is confirmed after a biopsy or surgical removal of the tumour. Under the microscope, a pathologist looks for characteristic patterns that define ependymoma (see below).
Molecular studies: Special tests performed on tumour tissue help confirm the diagnosis and rule out other tumour types. These tests can also identify a change in a gene called MYCN, which defines a specific and more aggressive form of spinal ependymoma.
Your final pathology report combines all of these findings into an integrated diagnosis that provides both the tumour type and relevant molecular information.
Under the microscope, spinal ependymomas are made up of small, uniform cells with round or oval nuclei. These cells may form distinctive structures called pseudorosettes, where tumour cells arrange themselves around a blood vessel, and ependymal rosettes, where they form a ring around a small empty space. These patterns reflect the tumour’s origin from ependymal cells that normally line fluid spaces.
The surrounding tissue often looks fibrillary, meaning it has fine, hair-like fibres. Some tumours show old hemorrhage (bleeding), areas of necrosis (dead tissue), or calcification (calcium deposits).
A tanycytic pattern (spindle-shaped cells with long thin processes) can sometimes be seen and may resemble other spinal tumours such as pilocytic astrocytoma or schwannoma.
The pathologist will also comment on mitotic activity (how quickly the cells are dividing) and whether new small blood vessels have formed (microvascular proliferation). These features, along with molecular findings, help determine the tumour’s CNS WHO grade.
Immunohistochemistry (IHC) uses antibodies to detect specific proteins in the tumour cells. It helps confirm that the tumour is an ependymoma and not another type of spinal tumour.
Most spinal ependymomas:
Are positive for GFAP and S100, which are proteins made by glial and ependymal cells.
Show a dot-like or ring-like pattern of staining with EMA, a classic finding for ependymoma.
Are negative for OLIG2 and SOX10, which helps distinguish them from astrocytomas and schwannomas.
If the tumour is MYCN-amplified, the MYCN protein may also be visible by immunohistochemistry.
Molecular tests provide information about the genetic and chromosomal changes in tumour cells. Your report may include several types of molecular testing:
This test looks at chemical “tags” attached to DNA that influence how genes are turned on or off. The resulting pattern, called a methylation profile, can confirm that the tumour is a spinal ependymoma and rule out other ependymoma types (such as myxopapillary ependymoma).
This test looks for missing or extra sections of chromosomes. The most common change in spinal ependymomas is loss of chromosome 22, which contains the NF2 gene. Changes like this support the diagnosis.
Targeted testing may look for NF2 gene mutations or MYCN amplification.
NF2 mutation: Common in typical spinal ependymomas.
MYCN amplification: Found in a small subset of tumours with more aggressive behaviour (see below).
Your report will describe the methods used (for example, fluorescence in situ hybridization or next-generation sequencing) and explain what the findings mean for your diagnosis and prognosis.
A small subset of spinal ependymomas shows amplification (extra copies) of a gene called MYCN. This gene controls how cells grow and divide. When MYCN is amplified, the tumour cells receive a stronger signal to keep dividing, which makes the tumour behave more aggressively.
MYCN amplification is identified through molecular testing such as copy-number analysis, FISH, or DNA methylation profiling. The amplification is listed in your report as “MYCN amplified” or “high-level MYCN amplification.”
Under the microscope, MYCN-amplified ependymomas often show features of a high grade tumour, including many mitotic figures (dividing cells), microvascular proliferation (new small blood vessels), and areas of necrosis (tissue death). These tumours are usually larger, may involve several spinal segments, and can spread through the spinal fluid (leptomeningeal dissemination).
For patients, this finding is important because MYCN-amplified ependymomas tend to come back after treatment and may require closer MRI follow-up, more extensive imaging, and sometimes more intensive therapy compared with other spinal ependymomas. Your care team will use this information to create a personalized treatment and monitoring plan.
Spinal ependymomas are assigned a CNS WHO grade, usually grade 2 or occasionally grade 3. The grade reflects microscopic features such as:
How many cells are dividing (mitotic activity).
Whether there are new small blood vessels (microvascular proliferation).
Whether the tumour invades nearby spinal cord tissue.
While the grade provides general information about aggressiveness, studies show that WHO grade alone does not reliably predict behaviour. Instead, factors such as extent of surgical removal, MYCN status, and molecular profile are stronger predictors of outcome.
For most people with a typical spinal ependymoma, the outlook is favourable, particularly if the tumour is completely removed. Long-term survival rates are high, but late recurrences can occur, so follow-up MRI scans are important.
For those with MYCN-amplified tumours, the outlook is more guarded. These tumours tend to grow faster, spread more easily, and return sooner after treatment. Early and complete diagnosis, combined with close monitoring and individualized therapy, offers the best chance for long-term control.
Does my report mention MYCN amplification, and what does it mean for my treatment plan?
What is the WHO grade of my tumour?
Was the tumour completely removed, or is more treatment needed?
Were NF2 or chromosome 22 changes found in my tumour?
How often will I need follow-up MRI scans?
What are the possible treatment options if the tumour comes back?