title: A novel BRAF mutation in association with primary amelanotic melanoma with oral metastases.
abstract: BACKGROUND
  In the context of amelanotic melanoma, little is known on the genetic or molecular background that determines the onset of this peculiar phenotype of melanoma and its sites of metastatic spread. However, it appears that amelanotic melanomas frequently lack BRAF mutations.
  
  
  OBJECTIVE
  To report the genetical analysis of one case amelanotic melanoma developing oral metastasis.
  
  
  METHODS
  The BRAF mutational status of the primary lesion was assessed by both Sanger sequencing and pyrosequencing.
  
  
  RESULTS
  Both methodologies showed changes in three nucleotides: C1796T; G1798A and T1799A. These mutations should result in a rare double aminoacid substitution in codons 599 and 600 of the BRAF protein (BRAF T599I/V600K).
  
  
  CONCLUSIONS
  This unusual mutation was associated with an uncommon clinical phenotype of the primary tumour and with an unusual site of metastatic spread. In the lack of comparable data, a potential association between the unusual mutation and clinical findings remains a matter of further studies.
authors.affiliation: Skin Cancer Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.|Department of Dermatology, Medical University of Graz, Graz, Austria.
authors.forename: I
authors.initials: I
authors.lastname: Zalaudek
authors.affiliation: Laboratory of Molecular Biology, Arcispedale S. Maria Nuova-IRCCS, Reggio Emilia, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Ciarrocchi
authors.affiliation: Pathology Unit, Arcispedale S. Maria Nuova-IRCCS, Reggio Emilia, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Piana
authors.affiliation: Skin Cancer Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Argenziano
authors.affiliation: Laboratory of Molecular Biology, Arcispedale S. Maria Nuova-IRCCS, Reggio Emilia, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Torricelli
authors.affiliation: Laboratory of Molecular Biology, Arcispedale S. Maria Nuova-IRCCS, Reggio Emilia, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Sancisi
authors.affiliation: Laboratory of Molecular Biology, Arcispedale S. Maria Nuova-IRCCS, Reggio Emilia, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Gandolfi
authors.affiliation: Skin Cancer Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Longo
authors.affiliation: Skin Cancer Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Moscarella
authors.affiliation: Department of Medical Oncology, Arcispedale S. Maria Nuova-IRCCS, Reggio Emilia, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Banzi
authors.affiliation: Laboratory of Molecular Biology, Arcispedale S. Maria Nuova-IRCCS, Reggio Emilia, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Nicoli
mesh_terms: D000328:Adult; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000473:pathology; D009062:Mouth Neoplasms / Q000556:secondary*; D009154:Mutation; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf