Researchers Discover Genes that Give Rise to Neuroblastoma

Original Content By Erica Neufeld (

Each year in the United States, approximately 650 children are diagnosed with neuroblastoma, a rare and aggressive children’s cancer found in the part of the nervous system outside of the brain that controls the body’s internal organs. There are a number of forms of neuroblastoma and combined, they account for 4% of all children’s cancer diagnoses, but cause 12% of deaths in children with cancer.

Researchers have long believed that neuroblastoma develops when normal neuroblasts (immature cells of the nervous system) fail to mature into nerve cells. Instead, the cells grow and divide uncontrollably, causing a tumor. What has not been clear is where and why the disease originates.

An international team of investigators, led by John M. Maris, MD, director, Center for Childhood Cancer Research at The Children’s Hospital of Philadelphia teamed up with the Children’s Oncology Group to perform the largest series of genetic studies of neuroblastoma ever performed. By studying over 4,000 patients, Dr. Maris’ team discovered a dozen genes that influence neuroblastoma development, a remarkable achievement since none were known when the research started a few years ago. These genes also program how aggressive the cancer can be, leading to new ideas for how investigators might use this new information to treat children with neuroblastoma.

For years, researchers have treated the various forms of neuroblastoma based on specific tumor characteristics. However, these same researchers knew little about what caused the disease. “Although there is much work to be done,” says Maris, “understanding this cancer’s origin provides a starting point for developing novel treatments.”

Armed with this information, researchers will now conduct studies to understand how such genetic changes create an increased risk for cancer. Maris says he suspects that neuroblastoma results from a series of genetic changes that combine into a “perfect storm” which cause this cancer.


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