Ependymoma
A rare type of brain or spinal cord tumor arising from ependymal cells
Quick Facts
- Type: Brain/Spinal Cord Tumor
- ICD-10: C71.9, C72.0
- Prevalence: Very rare (~1-3% of CNS tumors)
- Onset: Any age, peaks in childhood
Overview
Ependymoma is a rare type of tumor that develops in the central nervous system, specifically arising from ependymal cells that line the ventricles of the brain and the central canal of the spinal cord. These tumors account for approximately 1-3% of all central nervous system tumors and can occur anywhere along the neuraxis, though they most commonly develop in the posterior fossa (back part of the brain) in children and in the spinal cord in adults.
Ependymomas are classified by the World Health Organization (WHO) into three grades: Grade I (subependymoma and myxopapillary ependymoma), Grade II (classic ependymoma), and Grade III (anaplastic ependymoma). The grade determines the tumor's aggressiveness and influences treatment decisions and prognosis. While these tumors can affect people of any age, they have a bimodal distribution with peaks in early childhood and again in the fourth decade of life.
The prognosis for ependymoma varies significantly based on several factors including tumor location, grade, extent of surgical resection, and patient age. Complete surgical removal, when feasible, offers the best chance for cure. However, the location of many ependymomas near critical brain structures often makes complete resection challenging, requiring a multidisciplinary approach involving neurosurgery, radiation oncology, and medical oncology.
Symptoms
The symptoms of ependymoma depend primarily on the tumor's location, size, and rate of growth. Because these tumors can develop anywhere in the central nervous system, symptoms can be quite varied and may develop gradually or suddenly.
Common Symptoms
Brain Ependymoma Symptoms
- Increased intracranial pressure symptoms
- Nausea and vomiting, especially in the morning
- Balance and coordination problems
- Seizures (more common with supratentorial tumors)
- Cognitive changes or confusion
- Weakness on one side of the body
- Speech difficulties
Spinal Cord Ependymoma Symptoms
- Back or neck pain
- Progressive weakness in arms or legs
- Numbness or tingling in extremities
- Loss of bowel or bladder control
- Difficulty walking or maintaining balance
- Muscle stiffness or spasticity
Pediatric Considerations
In children, symptoms may include:
- Irritability and fussiness
- Failure to meet developmental milestones
- Regression of previously acquired skills
- Feeding difficulties
- Lethargy or decreased activity
- Rapid head growth (in infants)
Causes
The exact cause of ependymoma remains largely unknown. Like most brain tumors, ependymomas are thought to result from a combination of genetic and environmental factors that lead to abnormal cell growth and division.
Cellular Origin
Ependymomas arise from ependymal cells, which are specialized cells that:
- Line the ventricles of the brain
- Line the central canal of the spinal cord
- Produce and circulate cerebrospinal fluid
- Form part of the blood-brain barrier
Genetic Factors
- Neurofibromatosis Type 2 (NF2): Associated with increased risk of spinal ependymomas
- Chromosomal abnormalities: Loss of chromosome 22 commonly found
- Genetic mutations: Various genes involved in cell cycle regulation
- Family history: Very rare familial cases reported
Molecular Subtypes
Recent research has identified distinct molecular subtypes:
- Posterior fossa ependymomas: Group A (more aggressive) and Group B
- Supratentorial ependymomas: Often associated with RELA fusion
- Spinal ependymomas: Distinct molecular profile from brain tumors
Environmental Factors
No clear environmental risk factors have been established, but research continues into:
- Radiation exposure (therapeutic or occupational)
- Viral infections
- Chemical exposures
- Electromagnetic fields
Risk Factors
While most ependymomas occur sporadically without identifiable risk factors, several factors may increase the likelihood of developing these tumors:
Genetic Risk Factors
- Neurofibromatosis Type 2: Significantly increased risk of spinal ependymomas
- Age: Bimodal distribution with peaks in childhood (2-6 years) and adulthood (30-40 years)
- Gender: Slight male predominance in pediatric cases
- Race: More common in Caucasians
Medical History
- Previous radiation therapy to the head or spine
- History of other central nervous system tumors
- Immunosuppression or immune system disorders
- Certain genetic syndromes
Location-Specific Factors
- Pediatric posterior fossa: Most common location in children
- Adult spinal cord: More common in adults than children
- Supratentorial: Can occur at any age but often associated with specific genetic changes
Factors NOT Associated
The following are NOT known risk factors for ependymoma:
- Cell phone use
- Diet or lifestyle factors
- Most environmental exposures
- Head injuries
- Most infections
Diagnosis
Diagnosing ependymoma requires a comprehensive evaluation combining clinical assessment, neuroimaging, and histopathological examination. Early and accurate diagnosis is crucial for optimal treatment planning.
Clinical Evaluation
- Medical history: Detailed symptom timeline and family history
- Neurological examination: Assessment of cognitive function, reflexes, coordination
- Ophthalmologic exam: Check for papilledema (optic disc swelling)
- Developmental assessment: Important in pediatric cases
Neuroimaging
Magnetic Resonance Imaging (MRI)
- Gold standard for brain and spinal cord imaging
- T1-weighted, T2-weighted, and contrast-enhanced sequences
- FLAIR sequences to assess for CSF dissemination
- Diffusion-weighted imaging for tumor characteristics
Computed Tomography (CT)
- Useful for emergency evaluation
- Detects calcifications within the tumor
- Assesses for hydrocephalus
- Less detailed than MRI for soft tissue
Histopathological Diagnosis
- Tissue biopsy: Usually obtained during surgical resection
- Microscopic examination: Characteristic ependymal rosettes and perivascular rosettes
- Immunohistochemistry: Positive for GFAP, EMA, and S-100
- Electron microscopy: May show cilia and microvilli
Molecular Testing
- Chromosomal analysis for prognostic information
- RELA fusion testing for supratentorial tumors
- Methylation profiling for tumor classification
- Next-generation sequencing for research purposes
Staging and Extent of Disease
- Complete neuraxis MRI to assess for metastases
- Cerebrospinal fluid examination when appropriate
- Assessment of surgical resectability
- Evaluation of tumor grade and molecular features
Treatment Options
Treatment of ependymoma requires a multidisciplinary approach tailored to the tumor's location, grade, patient age, and overall health status. The primary goal is to achieve maximum safe resection while preserving neurological function.
Surgical Treatment
Primary Surgical Resection
- Gross total resection (GTR): Complete removal when feasible, associated with best outcomes
- Subtotal resection: When complete removal risks significant neurological damage
- Microsurgical techniques: Use of operating microscope and specialized instruments
- Intraoperative monitoring: Real-time assessment of neurological function
Specialized Techniques
- Awake craniotomy for tumors near eloquent brain areas
- Endoscopic techniques for ventricular tumors
- Image-guided surgery for precise tumor localization
- Ultrasonic aspiration for tumor debulking
Radiation Therapy
Indications
- Incomplete surgical resection
- High-grade tumors (Grade III anaplastic ependymoma)
- Recurrent disease
- Metastatic disease
Radiation Techniques
- Intensity-modulated radiation therapy (IMRT): Precise dose delivery
- Proton beam therapy: Reduced radiation to surrounding normal tissue
- Stereotactic radiosurgery: For small, well-defined tumors
- Craniospinal irradiation: For metastatic disease
Chemotherapy
- Limited role: Ependymomas generally resistant to chemotherapy
- Adjuvant therapy: May be considered in high-risk cases
- Recurrent disease: Various regimens under investigation
- Pediatric protocols: Age-specific considerations for children
Supportive Care
- Hydrocephalus management: Shunt placement when necessary
- Seizure control: Antiepileptic medications
- Steroid therapy: For reducing brain swelling
- Physical therapy: For motor function recovery
- Occupational therapy: For daily living skills
- Speech therapy: For communication difficulties
Follow-up and Monitoring
- Regular MRI surveillance every 3-6 months initially
- Neurological examinations
- Assessment of treatment-related side effects
- Long-term monitoring for recurrence
- Quality of life assessments
Prevention
Currently, there are no known ways to prevent ependymoma, as the exact causes remain unclear. However, understanding risk factors and maintaining overall health may be beneficial.
General Health Measures
- Avoid unnecessary radiation exposure: Particularly to the head and spine
- Genetic counseling: For families with known genetic syndromes
- Regular medical care: Early detection of symptoms
- Healthy lifestyle: Though not specifically preventive, supports overall health
For High-Risk Individuals
- NF2 patients: Regular MRI screening of brain and spine
- Family history: Awareness of potential genetic factors
- Previous cancer patients: Long-term follow-up after radiation therapy
Research and Future Prevention
- Ongoing studies of environmental risk factors
- Investigation of genetic predisposition
- Development of early detection methods
- Understanding of molecular pathways
What Does NOT Prevent Ependymoma
- Specific dietary changes
- Vitamin supplements
- Avoiding cell phones
- Exercise or lifestyle modifications
When to See a Doctor
Seek Emergency Care (Call 911)
- Sudden severe headache unlike any before
- Loss of consciousness or altered mental state
- Sudden onset of weakness or paralysis
- Seizures, especially first-time seizures
- Severe nausea and vomiting with headache
- Sudden vision loss or severe vision changes
- Severe balance problems or inability to walk
Schedule Urgent Appointment
- Progressive headaches that worsen over time
- Persistent morning headaches with nausea
- Gradual weakness in arms or legs
- Changes in vision or double vision
- New onset of seizures
- Personality or behavioral changes
- Balance or coordination problems
- Numbness or tingling in extremities
Pediatric Warning Signs
- Irritability and inconsolable crying
- Regression in developmental milestones
- Persistent vomiting without fever
- Changes in eating or sleeping patterns
- Rapid head growth in infants
- Loss of previously acquired skills
- Unusual clumsiness or falls
High-Risk Individual Monitoring
- NF2 patients should have regular screening
- Previous radiation therapy patients need monitoring
- Family history of brain tumors warrants vigilance
- Any new neurological symptoms should be evaluated
Follow-up Care
- After diagnosis, regular oncology appointments
- Scheduled MRI surveillance
- Monitoring for treatment side effects
- Rehabilitation and supportive care needs
Frequently Asked Questions
The curability of ependymoma depends on several factors including tumor location, grade, and extent of surgical resection. When complete surgical removal is achieved, particularly for low-grade tumors, the prognosis can be excellent. However, tumors in critical locations that cannot be completely removed may require additional treatment and have more variable outcomes.
Ependymoma is quite rare, accounting for only 1-3% of all central nervous system tumors. It affects approximately 200-300 new patients per year in the United States. While it can occur at any age, it shows a bimodal distribution with peaks in early childhood (2-6 years) and in adults (30-40 years).
Survival rates vary significantly based on multiple factors. Overall, 5-year survival rates range from 70-90% for completely resected low-grade tumors to 40-60% for high-grade or incompletely resected tumors. Children generally have better outcomes than adults, and spinal cord ependymomas typically have better prognoses than brain ependymomas.
Treatment duration depends on the specific case. After initial treatment (surgery with or without radiation), many patients require only regular monitoring with MRI scans. If the tumor is completely removed and doesn't recur, active treatment may not be needed long-term. However, some patients may need ongoing supportive care for treatment-related effects or tumor-related disabilities.
Ependymomas can spread within the central nervous system through cerebrospinal fluid pathways, but they very rarely spread outside the brain and spinal cord to other organs. When spread occurs, it's typically to other parts of the brain or spinal cord, which is why complete imaging of the entire neuraxis is important for staging.
References
- Pajtler KW, Witt H, Sill M, et al. Molecular Classification of Ependymal Tumors across All CNS Compartments, Histopathological Grades, and Age Groups. Cancer Cell. 2015;27(5):728-743.
- Merchant TE, Li C, Xiong X, et al. Conformal radiotherapy after surgery for paediatric ependymoma: a prospective study. Lancet Oncol. 2009;10(3):258-266.
- Kilday JP, Rahman R, Dyer S, et al. Pediatric ependymoma: biological perspectives. Mol Cancer Res. 2009;7(6):765-786.
- Gajjar A, Chintagumpala M, Ashley D, et al. Risk-adapted craniospinal radiotherapy followed by high-dose chemotherapy and stem-cell rescue in children with newly diagnosed medulloepithelioma: a multicentre, phase 2 trial. Lancet Oncol. 2006;7(10):813-820.
- National Cancer Institute. Childhood Ependymoma Treatment (PDQ®). NCI. 2024.