Whole-genome searches unlock secrets of a childhood cancer

October 26, 2015

The current findings build on 2008 studies by Maris's lab, one identifying the ALK gene as the major gene predisposing patients to the rare familial form of neuroblastoma, and the other identifying a region of chromosome 6 that increases the risk of the nonhereditary form of the disease. The ALK gene discovery has already led to a clinical trial led by Dr. Yael Mosse of The Children's Hospital of Philadelphia.

As gene studies continue to better define the genetic landscape of neuroblastoma, added Maris, pediatric oncologists can better develop more precise targeted treatments to improve survival and quality of life for children with this complex disease. The Cancer Center at Children's Hospital has one of the nation's largest research and clinical programs in pediatric oncology.

DNA samples for both studies were provided by the Children's Oncology Group, a multicenter collaborative research organization in which Maris chairs the committee overseeing basic and clinical research in neuroblastoma. A variety of funding sources supported both studies, including the National Institutes of Health, the Alex's Lemonade Stand Foundation, the Evan Dunbar Foundation, the Rally Foundation, the Andrew's Army Foundation, the Abramson Family Cancer Research Institute and the Giulio D'Angio Endowed Chair.

Maris is also on the faculty of the University of Pennsylvania School of Medicine. Scientists from six other centers in addition to Children's Hospital and the University of Pennsylvania contributed to the discovery or replication of the findings.

Capasso et al, "Common variations in BARD1 influence susceptibility to high-risk neuroblastoma," Nature Genetics, published online May 3, 2009. (dx.doi/10.1038/ng.374)

Diskin et al, "Copy number variation at 1q21.1 associated with neuroblastoma," Nature, published June 18, 2009. (dx.doi/10.1038/nature08035)