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Neurofibromatosis 2

Up to 40% of all cancers spread to the brain

What is neurofibromatosis 2?

Neurofibromatosis 2 is a condition arising from a genetic disorder that causes certain types of tumours in the brain and spinal cord.

Neurofibromatosis 2 is not a brain tumour.

The most common brain tumours associated with neurofibromatosis 2 are acoustic neuroma, schwannoma, ependymoma and meningioma. While these are usually low-grade and slow growing, like any brain tumour they can still present dangerous risks to life and well-being.

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What causes neurofibromatosis 2?

Neurofibromatosis 2 is caused by mutations in the NF2 gene. In approximately 50% of cases, the condition is inherited from an affected parent. Other cases result from new mutations in the gene.

What does the NF2 gene do?

The NF2 gene provides instructions for your body to make a protein called ‘merlin’ (also known as schwannomin) that is produced by schwann cells in the nervous system.

Schwann cells wrap around nerve cells (neurons) throughout the brain and spinal cord to form the myelin sheath, which insulates and supports the nerves so that they can function properly.

The merlin protein acts as a tumour suppressor. It prevents cells from growing and dividing in an uncontrolled way. When it fails to carry out this function, tumours form from the schwann cells that surround the nerves. Research indicates that merlin probably helps to control cell movement, cell shape and communication between cells.

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How will we find a cure for neurofibromatosis 2?

Like brain tumours themselves, there is no cure for neurofibromatosis 2. However, the research we are funding at our Centre of Excellence in the University of Plymouth could help lead towards finding a cure for this condition.

Plymouth is a leading research institution for low-grade brain tumours, and has a strong focus on meningioma and schwannoma tumours and neurofibromatosis 2. There is also a special neurofibromatosis 2 clinic at the Derriford Hospital in Plymouth.

Our research team at the Plymouth Centre have developed an all-human cellular model of schwannoma and meningioma brain tumours, thanks to tissue samples being donated by patients who have undergone surgery at Derriford.

This model is being used in laboratory experiments designed to learn more about the causes and behaviour of schwannomas, and ultimately to find a cure by developing targeted drug therapies.

They have a large bank of meningioma brain tumour samples, and have identified a wide variety of genetic mutations across all grades.

The team are developing a blood test that can be used to fast-track the identification different subgroups of meningioma. The tests may be used as a way to classify and monitor brain tumours without the need for a surgical biopsy.

They are also developing and testing a range of drugs for meningioma, including those caused by neurofibromatosis 2.

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