CNS Tumour with BCOR/BCORL1 Fusions is a very rare and aggressive brain tumour. It develops because of abnormal changes (fusions) involving the BCOR or BCORL1 genes. This tumour is different from the more common CNS tumour with BCOR internal tandem duplication (BCOR-ITD) and often requires specialized genetic testing for an accurate diagnosis.
Causes
The exact cause is unknown.
The tumour develops when the BCOR or BCORL1 genes become abnormally fused with other genes, such as CREBBP or EP300. These genetic changes cause brain cells to grow and divide uncontrollably.
Signs and Symptoms
Symptoms depend on the tumour’s location and size. Common symptoms may include:
- Persistent headaches
- Nausea and vomiting
- Seizures (fits)
- Weakness or numbness in parts of the body
- Problems with balance or coordination
- Vision changes
- Difficulty speaking or thinking clearly
- Personality or behavior changes
Diagnosis
Diagnosing this tumour can be difficult because it may look like other brain tumours under the microscope.
Imaging Tests
- MRI scan is usually the first test.
- The tumour often appears as a large, well-defined brain mass.
Biopsy
- A sample of the tumour is examined under a microscope.
- The tumour may show features similar to oligodendroglioma or ependymoma, which can lead to misdiagnosis.
Molecular Testing:
Specialised tests are needed to confirm the diagnosis:
- DNA methylation profiling
- RNA sequencing
- Genetic testing for BCOR or BCORL1 gene alterations
These tests help distinguish it from other brain tumours.
Treatment
Because this tumour is extremely rare, there is no standard treatment plan. Treatment is usually decided by a team of brain tumour specialists.
Common treatment options include:
Surgery
- Removal of as much of the tumour as possible.
Radiation Therapy
- Radiation is often given after surgery to destroy remaining cancer cells.
Chemotherapy
- Drugs such as temozolomide may be used. Some reported patients have shown good tumour control with radiation and temozolomide.
Follow-Up Care
Regular MRI scans are needed to monitor for recurrence or tumour growth.
Prognosis
The outlook varies from person to person. These tumours are generally considered aggressive, but some patients have responded well to a combination of surgery, radiation therapy, and chemotherapy. Because so few cases have been reported, doctors are still learning about the best treatment approaches.
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