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Dec 06 2012

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CHOP Researchers Identify Two Gene Mutations Linked to Neuroblastoma

NeuroblastomaFor decades, researchers at The Children’s Hospital of Philadelphia have worked to better understand and treat neuroblastoma, a cancer of nerve tissue.Neuroblastoma is frequently aggressive, causing approximately 12 percent of all childhood cancer deaths. In high-risk forms of the disease, the cancer tends to return after initial treatment, often with deadly results.

Using powerful gene-analysis tools, investigators at Children’s Hospital have discovered mutations in two related genes involved in the most aggressive form of neuroblastoma. While these findings do not immediately improve clinical treatments, they identify a novel pathway that is defective in these cancers, and scientists can now study this pathway to develop potential new therapies.

The investigators used sophisticated next-generation sequencing technology that identified the entire DNA sequence for a set of neuroblastoma tumors. In the current study, the researchers identified alterations in two genes that were not previously reported to be involved in neuroblastoma.

“These gene alterations were not previously known to be mutated in neuroblastoma, and they may significantly advance our knowledge of the underlying biological pathways that drive this disease,” said CHOP oncologist Michael D. Hogarty, MD, who co-led the study with Victor Velculescu, MD, PhD, of the Johns Hopkins Kimmel Cancer Center.

The research team found that the genetic mutations may occur in 5 to 15 percent of high-risk neuroblastomas, but the pathway these genes affect may have a broader role in the disease.

“These two genes function in a group of genes that seems to play an important role in neural cell behavior, and we will now work to discover if this insight may open up new treatments for children with tumors having these mutations,” Dr. Hogarty said.

The scientists received over $1 million in funding from the St. Baldrick’s Foundation, a volunteer-driven and donor-centered charity dedicated to raising money for childhood cancer research.

For more information on the study, visit the CHOP Research website.

Permanent link to this article: http://www.research.chop.edu/blog/chop-researchers-identify-two-gene-mutations-linked-to-neuroblastoma/

1 ping

  1. This Week in Neuroblastoma – 12/10/12 | Because of Ezra

    [...] CHOP advances in NB Research [...]

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