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ADVANCE Discourse: Lab

CHOP Makes Headway in Fighting Childhood Cancer

Published September 11, 2008 11:53 AM by Lynn Nace
Some exciting research is under way at Children's Hospital of Philadelphia (CHOP): Researchers there have found the gene that causes neuroblastoma, a rare childhood cancer. This discovery will have a profound impact on prevention and treatment strategies. Specifically, it will allow medical professionals to offer genetic tests to families affected by the inherited form of the disease. And, according to CHOP's pediatric oncologist Yael P. Mossé, MD, who also is the first author of the study (published Aug. 24 on Nature online), "because there are drugs in development that target the same gene in adult cancers, we can soon begin testing those drugs in children with neuroblastoma."

John M. Maris, MD, senior author of the study and director of the Center for Childhood Cancer Research at Children's Hospital, leads a laboratory "with the world's largest collection" of neuroblastoma tissue samples, gathered through the multicenter Children's Oncology Group in the U.S. and through multiple international collaborations, notes the article. It also explains how the study team used high-speed, automated analytic equipment at the Center for Applied Genomics at Children's Hospital. By employing genome-wide scans to analyze DNA from the 10 most informative families with a history of neuroblastoma, Dr. Mossé and her colleagues first discovered that a region of chromosome 2 was associated with the disease. Further sequencing of that region identified mutations in the anaplastic lymphoma kinase (ALK) gene in eight families with familial neuroblastoma.

The researchers say these discoveries will make it possible to offer simple, non-invasive screening for patients with a family history of neuroblastoma, ultimately allowing for earlier detection.

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