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Genetic source of rare childhood cancer found; gene is implicated in other cancers
Date:4/20/2009

St. Louis, April 20, 2009 The search for the cause of an inherited form of a rare, aggressive childhood lung cancer has uncovered important information about how the cancer develops and potentially sheds light on the development of other cancers.

The finding by researchers at Washington University School of Medicine in St. Louis, Children's National Medical Center in Washington, D.C., the International Pleuropulmonary Blastoma Registry at Children's Hospitals and Clinics of Minnesota, and other collaborating institutions adds the final link to the chain connecting the gene DICER1 to cancer development something that had been suspected but until now not definitively demonstrated.

The results were presented April 19, 2009, at the 100th Annual Meeting of the American Association of Cancer Research in Denver. The study shows that some children with the rare cancer pleuropulmonary blastoma (PPB) are born with a deleterious mutation in DICER1, a master controller gene that helps regulate the expression of other genes. The children studied came from families with a history of PPB or related disorders.

"PPB is the first malignancy found to be directly associated with inherited DICER1 mutations, making the cancer an important model for understanding how mutations and loss of DICER1 function lead to cancer," says lead author D. Ashley Hill, M.D., chief of pathology at Children's National Medical Center. "Additionally, we now believe that PPB tumors arise from an unusual mechanism in which cells carrying mutations induce nearby cells to become cancerous without becoming cancerous themselves."

Hill was principal investigator of the study, which began while she was on the Washington University faculty.

Only 50 to 60 cases of PPB are diagnosed each year around the world. Most children with PPB are under five years old. The cancer progresses from air-filled lung cysts in the early stage to solid lung tumors in later stages. If
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Contact: Gwen Ericson
ericsong@wustl.edu
314-286-0141
Washington University School of Medicine
Source:Eurekalert

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