Neuroblastoma attacks nerve networks that carry messages from the brain throughout the body. Neuroblastoma is commonly present at birth, but may not show symptoms until much later. It is the most common solid cancer in children and accounts for 7% of all childhood cancers, and results in 15% of all cancer-related deaths. It is a solid mass or malignant tumor that manifests in the abdomen or in the chest around the spinal cord, neck or pelvis.
One of the signs that may signal neuroblastoma is short periods of involuntary rapid eye movement in all directions. In most cases by the time symptoms are noticed the cancer has already spread from its origin in the body. Diagnosis in the past has been very difficult, because some of the side effects of the cancer can also be side effects of other diseases. Another reason for possible incorrect diagnosis currently is the chance of having a biopsy that shows cancer cells resembling lymphomas and rhabdomyosarcomas, when it may actually be neuroblastoma. Neuroblastoma is very rare and many times only a pathologist, who is familiar with this type of cancer, can tell the difference.
With the new discovery of a gene mutation link to the inherited version of childhood cancer neuroblastoma, doctors may be able to discover the cancer sooner and lead to better treatments. Dr. Yael Mosse, of Children's Hospital of Philadelphia, one of the researcher involved in the study said, "This discovery enables us to offer the first genetic tests to families affected by the inherited form of this disease."
During the group's research, they evaluated 10 families affected by the disease. The international team looked at the DNA makeup of each individual in the families. After the first scan, the group noticed a commonality of chromosome #2 and after another step further they noticed 8 of the 10 families had the same ALK gene, anaplastic lymphoma kinase gene. Thankfully, there are already several pharmaceutical companies working to develop ALK inhibitors. One drug is already in an early trial phase, as treatment for adult cancers. With these findings, they may begin trial tests on children with neuroblastoma.
The director of the Center for Childhood Cancer Research at Children Hospital, John M. Maris, M.D., was the senior author for the study that linked the gene mutation to Neuroblastoma. Dr. Maris said, "This is a very important discovery, as it not only helps us understand the genetic roots of this terrible disease, but also has lead to dramatically new ideas for curative therapy. Dr. Mosse adds, "As we increase our knowledge of ALK mutations, we will also offer specialized diagnostic testing for all newly diagnosed patients with neuroblastoma, to eventually allow oncologists to better customize treatments to a child's genetic profile." A new drug may really help the survival possibilities for children suffering from this scary childhood cancer which many times skirts around the radar. This new discovery may not only lead to new treatments, but it may also lead to ways to determine those at greater risk, and even prevention methods.