New research offers new hope for neuroblastoma in children

neuroblastoma cells

The nerve tissue cancer neuroblastoma affects roughly 1,000 children in the United States each year. The severity of the disease differs from patient to patient – affecting not only treatment regimen, but also the odds of survival. So what determines the severity of the disease? New research by University of Chicago Medicine suggests genetic variations may be at play.

The findings, published in the Journal of the National Cancer Institute, are the first to look at the genetic predispositions behind why some children develop certain severe forms of the disease.

Children in lower-risk categories experience a roughly 95 percent survival rate with minimal treatment. But, if a child is classified as high-risk, the survival rate falls to approximately 50 percent, even with an aggressive neuroblastoma treatment plan that includes high-dose chemotherapy, surgery, stem cell transplant, radiation and immunotherapy. One common indicator of high-risk cancer is if a child has extra copies (amplification) of a gene called MYCN (pronounced mick-N).

Mark Applebaum, MD, assistant professor of pediatrics at the UChicago Medicine, and his team studied the genetic characteristics of 3,200 neuroblastoma patients.

"If we can understand the genetic events causing the development of these different types of tumors, we can point away from certain types of treatments and refine the therapies we recommend," said Applebaum, MD.

The research is an important first step toward developing targeted neuroblastoma treatment regimens for children with varying high-risk neuroblastoma tumors.

Applebaum and his team at UChicago Medicine analyzed baseline genetic characteristics of about 3,200 neuroblastoma patients around the country. The team studied the patients' inheritable genetics and associated them to the type of neuroblastoma they developed. The results showed that common genetic variations in patients predisposed them to developing different neuroblastoma genotypes, including the likelihood of developing MYCN-amplification.

"Associating patient genetics with tumor genotype is a relatively new idea," said Applebaum. "We tried to link germline characteristics with MYCN-amplified versus non-MYCN-amplified tumors."

The next chapter in neuroblastoma research

While further studies are needed, the research is an important first step toward developing targeted neuroblastoma treatment regimens for children with varying high-risk neuroblastoma tumors.

UChicago Medicine's Comer Children's Hospital has a long record of caring for children with cancer, including hundreds of neuroblastoma patients. Led by Susan Cohn, MD, an internationally renowned expert in the disease, the hospital built a specific area dedicated to treating children with neuroblastoma. A team of faculty members is devoted to its research.

The study, titled "Evaluation of Genetic Predisposition for MYCN-Amplified Neuroblastoma," has been published online and will be available in the October edition of JNCI. Additional authors include: Eric Hungate, Andrew Skol, Zalman Vaksman, Maura Diamond, Lee McDaniel, Samuel Volchenboum, Barbara Stranger, John Maris, Sharon Diskin, Kenan Onel and Susan Cohn.

The study was supported in part by the Neuroblastoma Children's Cancer Society, the Children's Neuroblastoma Cancer Foundation, the Matthew Bittker Foundation, the Elise Anderson Neuroblastoma Research Fund, the Cancer Research Foundation; and the Conquer Cancer Foundation of the American Society of Clinical Oncology and the National Institutes of Health.

Neuroblastoma care

Comer Children's Hospital neuroblastoma program is led by Susan Cohn, MD, one of the world's foremost authorities on neuroblastoma care and research. Our neuroblastoma team works with each patient and their family to ensure an accurate diagnosis and to create an individualized treatment plan.

Explore neuroblastoma care services at Comer Children's