title: Detection of BRAF gene mutation in primary choroidal melanoma tissue.
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.
authors.affiliation: Department of Biomedical Sciences, Vittorio Emanuele II Hospital, Catania, Italy.
authors.forename: Grazia
authors.initials: G
authors.lastname: Malaponte
authors.forename: Massimo
authors.initials: M
authors.lastname: Libra
authors.forename: Pietro
authors.initials: P
authors.lastname: Gangemi
authors.forename: Valentina
authors.initials: V
authors.lastname: Bevelacqua
authors.forename: Katia
authors.initials: K
authors.lastname: Mangano
authors.forename: Fabio
authors.initials: F
authors.lastname: D'Amico
authors.forename: Maria C
authors.initials: MC
authors.lastname: Mazzarino
authors.forename: Franca
authors.initials: F
authors.lastname: Stivala
authors.forename: James A
authors.initials: JA
authors.lastname: McCubrey
authors.forename: Salvatore
authors.initials: S
authors.lastname: Travali
mesh_terms: D002830:Choroid Neoplasms / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D048049:Extracellular Signal-Regulated MAP Kinases / Q000378:metabolism; D005260:Female; D006801:Humans; D008545:Melanoma / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009154:Mutation; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D048490:raf Kinases / Q000378:metabolism
chemical_list: D019869:Phosphatidylinositol 3-Kinases; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; D048490:raf Kinases; D048049:Extracellular Signal-Regulated MAP Kinases