Mutations in a pair of genes in the most aggressive form of the childhood cancer neuroblastoma could point the way to new therapies, according to research just published in Nature Genetics.
Neuroblastoma is the most common cancer in children, generally seen in children under age 5. It begins in nerve tissue, and the outcomes vary widely. In some children, it disappears completely; in others it turns into a benign tumor and can be removed surgically. However, in some children it is very aggressive and spreads quickly.
The researchers, from across the U.S., screened tumor samples using powerful next-generation sequencing technology and gene-analysis tools and found new mutations in two related genes, ARID1A and ARID1B. According to the researchers, this study was the first of its kind to focus on a childhood tumor. The mutations found in the screening have not been seen before and have been linked with a particularly aggressive, treatment-resistant form of neuroblastoma, with shorter predicted survival.
"These two genes function in a group of genes that seems to play an important role in neural cell behavior, and we will now work to discover if this insight may open up new treatments for children with tumors having these mutations," Michael Hogarty at The Children's Hospital of Philadelphia told GenomeWeb Daily News.
These findings could help researchers develop new drugs for this fast-moving form of cancer. As the genetic signature of the tumor also shows up in the blood, it could lead to blood tests that could pick out which children should be treated quickly because their cancer is likely to progress, which could just be monitored, and which children may get a recurrence of their cancer.