Main Menu

Neuroblastoma: Genetic Risks Found

Monday 12 May 2008


Scientists at The Institute of Cancer Research, led by Professor Nazneen Rahman, have been taking part in an international study into the causes of neuroblastoma, an aggressive childhood cancer. The findings were published this week in the New England Journal of Medicine*.


Neuroblastoma, a cancer of the developing nervous system, is one of the most common types of childhood cancers, causing 15 percent of all childhood cancer deaths in the UK. Its different forms vary in severity: while some cases in young children disappear with minimal treatment, cases in older children can be relentlessly aggressive. Identifying the form is therefore crucial in planning appropriate treatment.


Professor Rahman's team at The Institute of Cancer Research's Section of Cancer Genetics undertook the UK phase of the international study, which was led by Paediatric Oncologist John M Maris, MD at the Children's Hospital of Philadelphia in the US.


Collaborating with the Children's Hospital's Centre for Applied Genomics, Dr Maris' group looked at over 550,000 alterations in the genome, known as single nucleotide polymorphisms, in 1,000 patients with neuroblastoma and 2,000 healthy individuals. They identified three genetic alterations that were much more common in the patients with neuroblastoma, on a region of chromosome 6 known as 6p22.


Professor Rahman's team analysed blood samples from neuroblastoma patients from across the UK that have been collected as part of a national study into the genetic causes of childhood cancers, known as the FACT study (Factors Associated with Childhood Tumours). Her team looked at the three alterations in 252 neuroblastoma patients and 788 healthy individuals in the UK and confirmed that chromosome region 6p22 is associated with an increased risk of the disease.


The researchers found that patients with the genetic alterations were more likely to develop aggressive neuroblastoma. There are two genes near to the variants that might underlie the association with neuroblastoma, but little is currently known about either of them. Future research can now be directed at trying to discover why carrying these genetic alterations increase the risk of neuroblastoma. In the future this may lead to tailored management for children with the aggressive form of the disease.


Professor Rahman said: "This is an exciting development in our understanding of how neuroblastoma is caused. There is still a lot of work to do, but this discovery is a starting point in identifying children that are at risk of the most serious form of the disease and hopefully will lead to better treatments in the future."


John M Maris, MD said: "Until now we have had very few clues as to what causes neuroblastoma. Our findings are very promising and lay the foundations for learning how genetic changes can lead to neuroblastoma."


The researchers will continue to collaborate in the future with the aim of better understanding the complex causes of neuroblastoma.




For further information please contact:
Elisa Parish
The Institute of Cancer Research
[email protected]
0207 153 5106/07721 747 900


* The paper, Chromosome 6p22 Locus Associated with Clinically Aggressive Neuroblastoma, was published in the New England Journal of Medicine, Wednesday 7th May 2008


About The Institute of Cancer Research

The Institute of Cancer Research is Europe's leading cancer research centre with expert scientists working on cutting edge research. It was founded in 1909 to carry out research into the causes of cancer and to develop new strategies for its prevention, diagnosis, treatment and care. Website: .

comments powered by Disqus