Gene responsible for rare and inherited, deadly childhood cancer discovered

Aug 25 2008

The discovery of a gene which causes a rare, inherited and deadly form of childhood cancer, could lead to new treatments for the disease.

Neuroblastoma is the most common solid cancer of early childhood and accounts for 7 percent of all childhood cancers, its aggressive nature, makes it responsible for 15% of all childhood cancer deaths.

It appears in the developing nerves of a child and often first manifests itself as a tumour in the chest or abdomen.

Familial or inherited neuroblastoma is a very rare relatively uncommon form of the disease which has long puzzled experts because some types of the disease strike infants but spontaneously disappear with little treatment, while other forms in older children can be relentlessly aggressive.

The international team of researchers say mutations in a gene called ALK are strongly linked to the cancer neuroblastoma and the discovery means families affected by the inherited form of the disease, can now be offered genetic tests.

The researchers from the United States, Italy and Belgium say several companies are already in the process of working on drugs that target the gene, which is also mutated in some cases of lung cancer and lymphoma and in all three cancers, ALK acts as an oncogene, or cancer-causing gene.

Dr. Yael Mosse from the Children's Hospital of Philadelphia, says because such drugs are already in development which target the same gene in adult cancers, testing can now begin with those drugs in children with neuroblastoma.

The researchers studied 20 families with one or more children with neuroblastoma and found mutations in the ALK gene that causes it to be constantly active in helping cells over-proliferate which is the hallmark of cancer.

Study leader Dr. John Maris says the important discovery adds to the understanding of the genetic roots of the terrible disease, but has also led to new ideas for curative therapy.

Following the discovery of the ALK mutations in familial neuroblastoma, the researchers also found that in sporadic cases there were ALK mutations in 12 percent of 194 tumour samples from children with the aggressive, high-risk forms of non-inherited neuroblastoma, the more common form of the disease.

The research is published in the journal Nature.