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Melanoma transcriptome reveals novel genomic alterations not seen before
Date:2/22/2010

February 23, 2010 Melanoma, the most deadly form of skin cancer, afflicts more than 50,000 people in the United States annually and the incidence rate continues to rise. In a study published online in Genome Research (www.genome.org), scientists have delved deeper than ever before into the RNA world of the melanoma tumor and identified genomic alterations that could play a role in the disease.

The latest high-throughput DNA sequencing technologies are ushering in a new era of discovery in cancer genomics that promises to reveal molecular mechanisms of the disease. Beyond cataloging the genetic mutations present in tumors, application of high-throughput sequencing to the RNA "transcriptome" can uncover other genomic alterations missed by DNA sequencing and identify potential targets for therapy.

For example, two adjacent genes can be transcribed together in a single "chimeric" RNA transcript. This RNA message is then translated into a protein with an altered or new function. In addition, rearrangements of the genome can cut and paste genes together, creating "gene fusions." These events occur in normal cells, but they also have the potential to cause disease. Recently these alterations have been detected a few tumor types, and it is very likely that more will be found in other cancers such as melanoma.

To capture the full spectrum of genomic alterations present in the expressed genes of melanoma, a team of researchers in the United States and Switzerland performed an integrative analysis of melanoma tumors using RNA sequencing and structural genomic data. The group identified 11 novel gene fusions involving several common cancer-related genes, and 12 cases of chimeric transcripts. "This is the first direct evidence for these types of genetic alterations in melanoma," said Michael Berger, a research scientist at the Broad Institute and first author of the report.

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Contact: Peggy Calicchia
calicchi@cshl.edu
516-422-4012
Cold Spring Harbor Laboratory
Source:Eurekalert

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