title: GNAQ mutation in a patient with metastatic mucosal melanoma.
abstract: BACKGROUND
  Mucosal melanomas represent about 1% of all melanoma cases and classically have a worse prognosis than cutaneous melanomas. Due to the rarity of mucosal melanomas, only limited clinical studies with metastatic mucosal melanoma are available. Mucosal melanomas most commonly contain mutations in the gene CKIT, and treatments have been investigated using targeted therapy for this gene. Mutations in mucosal melanoma are less common than in cutaneous or uveal melanomas and occur in descending order of frequency as: CKIT (20%), NRAS (5%) or BRAF (3%). Mutations in G-alpha proteins, which are associated with activation of the mitogen-activated protein kinase pathway, have not been reported in mucosal melanomas. These G-alpha protein mutations occur in the genes GNAQ and GNA11 and are seen at a high frequency in uveal melanomas, those melanomas that begin in the eye.
  
  
  METHODS
  A 59-year old Caucasian male was diagnosed with a mucosal melanoma after evaluation for what was thought to be a hemorrhoid. Molecular analysis of the tumor revealed a GNAQ mutation. Ophthalmologic exam did not disclose a uveal melanoma.
  
  
  CONCLUSIONS
  Here we report, to our knowledge, the first known case of GNAQ mutation in a patient with metastatic mucosal melanoma.
authors.forename: Chung-Young
authors.initials: CY
authors.lastname: Kim
authors.forename: Dae Won
authors.initials: DW
authors.lastname: Kim
authors.forename: Kevin
authors.initials: K
authors.lastname: Kim
authors.forename: Jonathan
authors.initials: J
authors.lastname: Curry
authors.forename: Carlos
authors.initials: C
authors.lastname: Torres-Cabala
authors.affiliation: Department of Melanoma Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX, USA. sppatel@mdanderson.org.
authors.forename: Sapna
authors.initials: S
authors.lastname: Patel
mesh_terms: D044385:GTP-Binding Protein alpha Subunits / Q000235:genetics*; D043802:GTP-Binding Protein alpha Subunits, Gq-G11; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009092:Mucous Membrane / Q000473:pathology*; D009154:Mutation; D009362:Neoplasm Metastasis / Q000235:genetics* / Q000473:pathology
chemical_list: C554061:GNAQ protein, human; D044385:GTP-Binding Protein alpha Subunits; D043802:GTP-Binding Protein alpha Subunits, Gq-G11