Abstract
Numerous BRAF mutations have been detected in melanoma biopsy specimens and cell lines. In contrast, several studies report lack of BRAF mutations in uveal melanoma including primary and metastatic choroidal and ciliary body melanomas. To our knowledge, for the first time, here we report a case of choroidal melanoma harboring the BRAF mutation (V600E). The activation of RAF/MEK/ERK pathway, although independent of BRAF mutation, was reported in uveal melanoma. The presence of V600E mutation indicates that the RAF/MEK/ERK pathway, in addition to cutaneous melanoma progression, may play a role in the choroidal melanoma development.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Choroid Neoplasms / enzymology
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Choroid Neoplasms / genetics*
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Choroid Neoplasms / pathology
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DNA Mutational Analysis
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Exons / genetics
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Extracellular Signal-Regulated MAP Kinases / metabolism
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Female
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Humans
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Melanoma / enzymology
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Melanoma / genetics*
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Melanoma / pathology
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Middle Aged
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Mutation
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Phosphatidylinositol 3-Kinases / genetics
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Proto-Oncogene Proteins B-raf / genetics*
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raf Kinases / metabolism
Substances
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Phosphatidylinositol 3-Kinases
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BRAF protein, human
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Proto-Oncogene Proteins B-raf
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raf Kinases
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Extracellular Signal-Regulated MAP Kinases