Breakthrough for study of neuroblastoma

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.

Neuroblastoma, a cancer of the developing nervous system, is one of the most common types of childhood cancers, causing 15% 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 Maris, at the Children's Hospital of Philadelphia in the US. The findings were published in the New England Journal of Medicine.

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.

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