Scientists identify genetic changes involved in childhood cancer

In collaboration with the Press Association

A new study has shed light on the genetic causes of neuroblastoma, a rare but aggressive childhood cancer that affects around 100 children a year in the UK.

A team of scientists led by the Children's Hospital of Philadelphia have identified three separate genetic variants that are more common among children with the disease - which is a cancer of the peripheral nervous system. These three gene variants are all located in the same region of DNA.

Children with certain common DNA variations in this particular region of chromosome 6 were found to have an elevated risk of a particularly aggressive form of the disease.

Lead researcher Dr John Maris, director of the hospital's Centre for Childhood Cancer Research, said: "Until now we had very few clues as to what causes neuroblastoma. Although there is much work to be done, understanding this cancer's origin provides a starting point for developing novel treatments."

The researchers analysed blood samples from around 1,000 neuroblastoma patients and a further 2,000 cancer-free children.

Analysis revealed three specific genetic variations that were much more common in patients with neuroblastoma, all of which occurred together on a region of chromosome 6 called 6p22.

Additional samples from other groups of patients in the US and the UK have confirmed the link between the three genetic variants and the disease.

Dr Maris said that further research is being carried out to find out how these relatively common genetic changes increase the risk of cancer.

"Ultimately, they probably cause subtle changes in gene expression during early development, interacting with other genes yet to be discovered. This suggests that neuroblastoma has complex causes, in which a series of genetic changes may occur at different sites to combine into a 'perfect storm' that results in this cancer," he suggested.

Dr Maris pointed out that prenatal testing for the genetic changes would be premature as they do not necessarily lead to cancer. However, he said that the discovery "lays the foundation for learning how these initial changes influence biological pathways that lead to neuroblastoma".

"Understanding those pathways may guide us to new and better therapies that precisely target this cancer."

The findings are published in the New England Journal of Medicine.