Article in Nature implicates ALK mutations and also reports that it has a role in sporadic cases of the disease.

Scientists have discovered that gene mutations in the anaplastic lymphoma kinase (ALK) gene are the main cause of inherited childhood neuroblastoma. Additionally, the same mutations also play a key role in high-risk forms of noninherited neuroblastoma.

The research team conducted genome-wide scans to analyze DNA from 10 families with a history of neuroblastoma. They first discovered that a region of chromosome 2 was associated with the disease. Further sequencing of that region identified mutations in the ALK gene in eight families with familial neuroblastoma.

The scientists then focused on the more common sporadic, or nonfamilial, cases of neuroblastoma. They identified that ALK mutations occurred in 12% of 194 tumor samples from the aggressive, high-risk form of the disease.

Investigators on this study came from The Children’s Hospital of Philadelphia, the National Institute for Cancer Research, Genoa, Italy, Ghent University Hospital, Belgium, Scripps Research Institute, and the University of Rome.

The article appears online August 24 in the journal Nature.

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