Survival rates for one of the most frequent forms of kidney cancer in children could be improved thanks to an important new discovery.
Funded by AICR and Cancer Research UK, Professor Eamonn Maher and his team at the University of Birmingham have identified a gene linked to an increased risk of a Wilms tumour, also known as nephroblastoma, which mainly affects children under the age of five.
While kidney cancer in children is rare, around 70 children in the UK develop a Wilms tumour each year. The good news is that nine out of 10 of those diagnosed are cured.
The tumour can develop when a baby is still in the womb, but symptoms may not appear until a few years later. While the causes are still unknown, some risk factors have been identified. Girls are slightly more at risk than boys as are children with a family history of the disease. Children born with certain abnormalities are also more susceptible- around 15% of the children who develop a Wilm’s tumour also have a birth defect.
Professor Maher and his team studied children with Perlman Syndrome, a congenital overgrowth condition known to be associated with Wilms tumour susceptibility. The researchers identified a region called 2q37.1 that contained an altered gene and then identified the DIS3L2 gene as the cause of the overgrowth and increased risk of Wilms tumour.
The gene alterations in children with Perlman syndrome stop the DIS3L2 gene from working, but if a normal copy of the DIS3L2 gene is put back in cancer cells at high levels, it suppresses the growth of these cells.
This current study, published in the prestigious journal: ‘Nature Genetics’, raises hope that better knowledge of how Wilms tumours are caused can be used to raise survival rates even higher.
Said Professor Maher: “Though Perlman syndrome is a rare disorder, the knowledge we have gained from finding that DIS3L2 is the genetic cause, will enable us to diagnose the disorder more easily and give us clues to the pathways that are important in causing the most common kidney tumour in children.”
AICR's Dr Lara Bennett said: “Understanding the genetic causes of cancer is crucial if we are to develop effective new treatments. With this discovery, we have made an important step towards helping children who get this type of kidney cancer.”