Abstract
A single institution series of 48 mucosal melanomas (MMs) has been analyzed for the presence of KIT mutations using high-resolution melting and sequencing of abnormally melted DNA fragments. The analysis of exons 9, 11, 13, and 17 has revealed eight of 48 (17%) nonsynonymous alterations, including zero of seven head and neck, six of 24 anorectal, one of 15 genitourinary, one of one gastric, and zero of one mediastinal MMs. Seven of these mutations were potentially associated with the tumor sensitivity to KIT tyrosine kinase inhibitors. One tumor harbored somatically acquired silent nucleotide substitution c.1383A>G (T461T). This study adds to the evidence that a substantial portion of MMs carry a therapeutically relevant mutation in the KIT oncogene.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Base Sequence
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Colorectal Neoplasms / epidemiology
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Colorectal Neoplasms / genetics*
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Colorectal Neoplasms / pathology
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DNA Mutational Analysis / methods
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Gene Frequency
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Head and Neck Neoplasms / epidemiology
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Head and Neck Neoplasms / genetics*
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Head and Neck Neoplasms / pathology
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Humans
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Melanoma / epidemiology
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Melanoma / genetics*
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Melanoma / pathology
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Mucous Membrane / metabolism
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Mucous Membrane / pathology
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Mutation / physiology
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Polymorphism, Single Nucleotide
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Proto-Oncogene Proteins c-kit / genetics*
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Russia / epidemiology
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Stomach Neoplasms / epidemiology
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Stomach Neoplasms / genetics*
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Stomach Neoplasms / pathology
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Urogenital Neoplasms / epidemiology
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Urogenital Neoplasms / genetics*
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Urogenital Neoplasms / pathology
Substances
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Proto-Oncogene Proteins c-kit