Sifting the Genome for Melanoma Clues

More than Skin Deep

Using next-generation whole genome sequencing, scientists involved with the St. Jude Children’s Research Hospital –Washington University Pediatric Cancer Genome Project are working to understand the genetic mistakes that underlie the development and growth of melanoma. Researchers hope this project will lay the foundation for improved diagnostic testing as well as more effective melanoma therapies.

“We’ve done a lot of work on the genetics of pediatric melanoma—something nobody else has done,” Pappo says.

He and Navid have teamed up with Armita Bahrami, MD, of St. Jude Pathology; Howard Hughes Medical Investigator Michael Dyer, PhD, of St. Jude Developmental Neurobiology; and scientists at Washington University in St. Louis to examine three subtypes of pediatric melanomas: one that is identical to adult melanoma when viewed under the microscope; a different one that arises in large moles that are present at birth; and a Spitzoid melanoma, which is a type of melanoma that is difficult to diagnose.

Preliminary analysis of the data has revealed distinct genomic signatures for each melanoma subtype.

“Melanoma has the largest number of mutations of any of the pediatric cancers sequenced thus far in the Pediatric Cancer Genome Project,” Bahrami says. “The number of mutations is just mind blowing.”

The researchers hope to complete their investigation and publish their findings within the next few months.

Abridged from Promise, Summer 2013

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