London, Aug 25 : Scientists at Children's Hospital have identified the gene responsible for inherited version of the childhood cancer neuroblastoma.
With the help of high-speed, automated analytic equipment, the study team led by pediatric oncologist Yael P. Moss, M.D., of The Children's Hospital of Philadelphia found 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.
"This discovery enables us to offer the first genetic tests to families affected by the inherited form of this disease," Nature magazine quoted Moss as saying.
"Furthermore, because there already are drugs in development that target the same gene in adult cancers, we can soon begin testing those drugs in children with neuroblastoma," Moss added.
After detecting ALK mutations in familial neuroblastoma, the researchers then focused on the more common sporadic (non-familial) cases of neuroblastoma, and found that ALK mutations occurred in 12 percent of 194 tumour samples from the aggressive, high-risk form of the disease
Moss said that mutations in ALK gene might offer simple, non-invasive screening for patients with a family history of neuroblastoma.
She said that ultrasound or a urine test could assist surveillance of children with an ALK mutation, and could be detected at an early stage.
"As we increase our knowledge of ALK mutations, we will also offer specialized diagnostic testing for all newly diagnosed patients with neuroblastoma, to eventually allow oncologists to better customize treatment to a child's genetic profile," she added.
The study is published online Aug. 24 in the journal Nature.