Neuroblastoma

US scientists have discovered genetic faults that appear to be behind the majority of inherited cases of the childhood cancer neuroblastoma.

Neuroblastoma is the most common solid cancer in early childhood, accounting for around seven per cent of all childhood cancers and around one in six of all childhood cancer deaths.

The disease starts in the child's developing nerves and often appears as a tumour in the chest or abdomen.

*This is a very important discovery, as it not only helps us understand the genetic roots of this terrible disease, but also has led to dramatically new ideas for curative therapy.* - Dr John Maris, director, Children's Hospital of Philadelphia's Centre for Childhood Cancer Research

However, inherited neuroblastoma is relatively rare compared to non-hereditary forms of the disease.

Researchers at the Children's Hospital of Philadelphia have now discovered that many cases of inherited neuroblastoma involve faults in one particular gene, and that the same gene also plays a significant role in some forms of non-inherited neuroblastoma.

The researchers, whose findings are published in the journal Nature, identified the crucial gene while analysing DNA from ten families with a history of the disease.

They discovered a link between a region of DNA on chromosome 2 and the disease, and narrowed it down to a gene called anaplastic lymphoma kinase (ALK) in eight of the ten families.

The researchers then discovered that around one in eight tumour samples taken from non-inherited cases of neuroblastoma also had ALK mutations.

The findings could eventually lead to new prevention and treatment strategies. Study author Dr Yael Mosse, a paediatric oncologist at Children's Hospital, said that the discovery enables the first ever genetic tests for families affected by the inherited form of the disease.

She commented: "This finding means that it is possible to offer simple, non-invasive screening for patients with a family history of neuroblastoma.

"Furthermore, because there already are drugs in development that target the same gene in adult cancers, we can soon begin testing those drugs in children with neuroblastoma.

"As we increase our knowledge of ALK mutations, we will also offer specialised diagnostic testing for all newly diagnosed patients with neuroblastoma, to eventually allow oncologists to better customise treatment to a child's genetic profile."

Dr John Maris, director of Children's Hospital's Centre for Childhood Cancer Research, added: "This is a very important discovery, as it not only helps us understand the genetic roots of this terrible disease, but also has led to dramatically new ideas for curative therapy."

The team now plan to carry out clinical trials of drugs that target ALK in children with high-risk neuroblastoma.