What is CNS Tumour With BCOR Internal Tandem Duplication?
CNS Tumour with BCOR Internal Tandem Duplication (BCOR-ITD) is a rare type of brain cancer that mostly affects babies and young children. It develops because of a change (mutation) in a gene called BCOR, which normally helps control how cells grow and divide.
This tumour can occur in different parts of the brain, especially in the cerebral hemispheres and cerebellum.
Causes
This tumour is caused by a genetic change called a BCOR Internal Tandem Duplication (BCOR-ITD). This change affects the normal function of the BCOR gene and causes brain cells to grow and divide in an uncontrolled way, leading to tumour formation.
The exact reason why this mutation occurs is not yet fully understood.
Signs and Symptoms
Symptoms usually happen because the tumour takes up space inside the brain and increases pressure in the skull.
Common symptoms include:
- Headaches
- Nausea and vomiting
- Seizures (fits)
- Balance and coordination problems
- Weakness in the arms or legs
- Vision problems
- Difficulty walking
- Changes in behavior or learning ability
- Tiredness and irritability
In infants and very young children, symptoms may also include poor feeding, excessive crying, or an unusually large head size.
Diagnosis
Doctors use several tests to diagnose this tumour:
Brain Imaging
MRI scans are usually performed to look for a tumour in the brain and determine its size and location.
Tumour Examination
If possible, the tumour is removed or biopsied and examined under a microscope.
Genetic Testing
Special laboratory tests such as DNA sequencing or molecular testing are used to confirm the presence of the BCOR-ITD mutation. This is the most important test for making a definite diagnosis.
Treatment
Treatment usually involves a combination of:
Surgery
Doctors try to remove as much of the tumour as possible.
Chemotherapy
Anti-cancer medicines are used to destroy remaining cancer cells and reduce the risk of the tumour returning.
Radiotherapy
Radiation treatment may be used in some patients, depending on their age and the extent of the disease.
Follow-Up Care
Regular MRI scans and medical check-ups are needed to monitor recovery and detect any signs of tumour recurrence.
Prognosis
BCOR-ITD brain tumours are considered aggressive cancers and can be difficult to treat. However, early diagnosis and treatment can improve outcomes. Researchers continue to study this rare tumour to develop better treatments and improve survival rates for affected children.
You can help us with your donation:
Without a Ribbon is a charity that works hard to aid those who suffer from rare cancers. You can help our cause in a variety of ways: