US Pharm. 2009;34(11)(Oncology suppl):14.
National Institutes of Health (NIH) researchers have identified new genetic mutations involved in melanoma, the deadliest form of skin cancer. This finding is especially encouraging because some of the mutations, which were found in nearly one-fifth of melanoma cases, are found in a gene already targeted by a drug approved for treating certain breast cancers.In work published in Nature Genetics, a team led by Yardena Samuels, PhD, of the National Human Genome Research Institute sequenced the protein tyrosine kinase (PTK) gene family in tumor and blood samples from people with metastatic melanoma. The NIH study was among the first to use large-scale DNA sequencing to systematically analyze all 86 members of the PTK gene family in melanoma samples. The team’s initial survey, which involved samples from 29 melanoma patients, identified mutations in functionally important regions of 19 PTK genes, only three of which had been previously implicated in melanoma. The researchers then conducted more detailed analyses of those 19 genes in samples from a total of 79 patients with melanoma. Researchers detected mutations in the ERBB4 gene (also known as HER4) in 19% of patients’ tumors, making it by far the most frequently mutated PTK gene in melanoma.
