What is CNS Neuroblastoma, FOXR2-Activated?
CNS Neuroblastoma, FOXR2-Activated is a rare cancerous brain tumour that mainly affects children. It develops from immature nerve cells in the brain and is caused by changes that activate a gene called FOXR2, which helps the tumour grow. It usually occurs in the upper part of the brain (supratentorial region).
Causes
The exact cause is not known. Researchers believe the tumour develops when changes in the FOXR2 gene cause abnormal cell growth. These genetic changes happen inside the tumour cells and are not usually inherited from parents.
Signs and Symptoms
Symptoms depend on the tumour’s size and location in the brain. Common symptoms include:
- Headaches
- Nausea and vomiting
- Seizures (fits)
- Weakness in an arm or leg
- Problems with balance or coordination
- Vision changes
- Difficulty speaking or concentrating
- Changes in behavior or personality
Diagnosis
Doctors use several tests to diagnose this tumour:
Imaging Tests
- MRI scan of the brain is the main imaging test.
- The tumour often appears as a well-defined mass with both solid and cystic (fluid-filled) areas.
- Tissue Examination (Biopsy): A sample of the tumour is examined under a microscope.
- The tumour usually contains small round cancer cells and may show Homer-Wright rosettes, a characteristic microscopic pattern.
Molecular Testing:
Special genetic tests are needed to identify FOXR2 activation or FOXR2 gene rearrangements.
DNA methylation profiling
It may be used to confirm the diagnosis and distinguish it from similar brain tumours.
Additional Tests:
Examination of cerebrospinal fluid (CSF) may be performed to check whether the tumour has spread within the central nervous system.
Treatment
Treatment usually involves a combination of therapies:
Surgery
- Doctors try to remove as much of the tumour as safely possible.
Radiation Therapy
- Radiation is often given to the brain and sometimes the spinal cord to destroy remaining cancer cells.
Chemotherapy
- Anti-cancer drugs may be used after surgery and radiation to reduce the risk of recurrence.
Follow-Up Care
- Regular MRI scans and medical checkups are important to monitor for tumour recurrence.
Prognosis
The outlook for patients with CNS neuroblastoma, FOXR2-Activated, is generally better than some other aggressive embryonal brain tumours, especially when treated with surgery, radiation, and chemotherapy. However, the tumour can still return, so long-term follow-up is necessary.
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