Medical researchers have discovered a gene that is responsible for causing an inherited form of tumour known as spinal meningioma.
Meningiomas are the commonest form of tumour affecting the brain and spine and are common in people who are affected by the genetic disorder Neurofibromatosis 2 (NF2).
NF2 patients are more susceptible to meningiomas because they have inherited a gene with the potential to cause normal cells to become cancerous.
Researchers from Saint Mary’s Hospital in Manchester and the University of Manchester worked with families with a history of meningiomas affecting the spinal cord.
Using a powerful new DNA sequencing technique called Next Generation Sequencing, the team was able to check all the genes of three individuals with multiple spinal meningiomas. This led to the identification of changes in a gene called SMARCE1 which lead to spinal meningiomas in some families.
The findings have been published in the prestigious international journal Nature Genetics.
Professor Gareth Evans, a consultant in medical genetics at Saint Mary’s Hospital, said: “This is internationally groundbreaking research in which we have identified the gene that causes an inherited version of spinal meningioma, a tumour that occurs on the lining of the brain and spinal cord and which is prevalent in NF2 patients.
“The next step is to develop a screening programme to assess the risk of developing spinal tumours for individuals in affected families and to investigate possible treatments to prevent spinal tumours from growing.”
Just over two people in every 100,000 develop meningiomas in the head and spine, with twice as many women as men diagnosed with the condition. They can affect people of all ages, including children.
Neurofibromatosis, which has two main types – NF1 and NF2, affects the skin and nervous system including the brain. Soft, non-cancerous tumours develop on the skin and along the nerve tissue throughout the body. A tell-tale sign of the condition is often the presence of cafe-au-lait spots on the body.
More than 25,000 people in the UK are affected by NF and every day a baby is born with the condition. NF is more prevalent than Duchenne muscular dystrophy, cystic fibrosis and Huntington’s Disease combined, but as yet there is no cure.
The Manchester team’s pioneering work was funded by The Children’s Tumor Foundation, a US-based charity supporting neurofibromatosis research, and the Association for International Cancer Research, a global cancer charity.
CTF works closely with the UK-based Children with Tumours charity – - which is chaired by Professor Evans. CWT raises funds to provide respite to children and their carers affected by Neurofibromatosis and contribute towards vital research.