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St. Jude Researcher Touches on Initial Pediatric Cancer Project Findings at AACR

By Andrea Anderson

ORLANDO, Fla. (GenomeWeb News) – Preliminary findings from the St. Jude Children's Research Hospital-Washington University Pediatric Cancer Genome Project suggest mutation frequency across the genome varies with cancer type for childhood cancers, James Downing, scientific director at St. Jude's Children's Research Hospital, said at the American Association for Cancer Research annual meeting.

Those involved in the pediatric cancer genome project plan to do whole-genome sequencing for 600 tumor-normal pairs representing a range of brain tumors, solid tumors, and leukemias. Researchers at St. Jude's Children's Research Hospital and Washington University spearheaded the effort, which was launched early last year.

In his talk during a plenary session on integrative cancer genomics yesterday, Downing touched on results from the first 50 tumors sequenced, which include medulloblastoma, infant acute lymphoblastic leukemia, acute myeloblastic leukemia, and other cancer samples.

"The early data generated through this project illustrates the remarkable power of these approaches to define the underlying genetic lesions in pediatric cancer," Downing wrote of the project in the abstract for his talk. "The generated data should serve as an important resource for the community of cancer researchers."

Results from these first genomes point to a range of mutation frequencies in childhood cancers, he said.

For instance, Downing noted, infant ALL genomes tested so far contain almost no obvious point mutations and very few copy number changes, despite the aggressive nature of the disease. That, in turn, suggests additional epigenomic studies might be particularly useful for learning more about infant ALL biology.

Meanwhile, Downing said, the team's studies of a form of pediatric AML called acute megakaryoblastic leukemia have already uncovered a gene fusion involving two chromosome 16 genes.

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