Researchers from the University of Chicago have identified a gene defect that causes the development of leukemia in children with Down syndrome. The discovery, scheduled for Advance Online Publication on Nature Geneticss website on 12 August, could speed diagnosis and provide a new target for therapy.
Children with Down syndrome are 10 to 20 times as likely as unaffected children to develop leukemia. They most commonly develop a type known as acute megakaryoblastic leukemia (AMKL), which is extremely rare in children without Down syndrome.
"This study, for the first time, defines a part of the molecular pathway leading to acute megakaryoblastic leukemia," said John Crispino, Ph.D., assistant professor in the Ben May Institute for Cancer Research at the University of Chicago and director of the study. "Having three copies of chromosome 21 places children with Down syndrome at increased risk for leukemia, then this abnormality tips the balance toward AMKL."
John Easton | EurekAlert!
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