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DISCOVERING A NEW CAUSE OF SPINAL TUMOURS

Professor Gareth Evans used Worldwide Cancer Research funding to track down a gene that causes meningioma, an inherited type of brain and spine tumour. Working with families who have this condition, he was able to use a cutting-edge molecular technique to uncover important genetic changes in their DNA.

Meningioma tumours develop on the thin lining surrounding the brain and spinal cord. Around 1 in 4 of all diagnosed brain tumours will be meningiomas. Some people may have a condition called neurofibromatosis type 2 (NF2) which makes them more susceptible to this type of tumour, whilst others have no known underlying cause.

In 2012, we awarded Professor Evans and his team at the University of Manchester a grant to help him search for new genetic causes of meningioma. He worked with individuals who have a strong family history of meningiomas in the spine, and used a powerful new technique called next generation sequencing. This technique allows scientists to search huge amounts of DNA for mutations very quickly and relatively cheaply.

Within the first year of his award, Professor Evans identified changes in a gene called SMARCE1 in two individuals. SMARCE1 normally helps prevent the growth of tumours in the body. However, these changes actually disrupt the gene so it no longer works well. When he looked at the SMARCE1 gene in other individuals, he found that they too had mutations.

This was an incredible find, and Professor Evans has since set up a clinical testing service to diagnose spinal meningiomas caused by SMARCE1 mutations. Dr Miriam Smith, who was involved in the study, says that the service “will help clinicians assess a patient’s risk of developing further tumours, and will help them to differentiate this newly described condition from other diseases that also predispose to meningiomas.”

By discovering which mutations families carry, doctors can diagnose cancers earlier and offer better targeted treatments. Importantly, those families can also better plan for the future. Doctors can now determine if a patient’s meningioma is caused by changes in SMARCE1, instead of perhaps other underlying conditions such as NF2.

This research has not only led to better diagnosis of brain and spine tumours, but has also given us an increased understanding of the genes involved in the initiation and progression of the cancer.

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