title: Skin metastases in metastatic uveal melanoma: GNAQ/GNA11 mutational analysis as a valuable tool.
abstract: BACKGROUND
  Uveal melanomas represent 3.1% of all melanomas, with a high potential of metastatic disease of up to 50%, where the median survival time is 6 months. Though liver metastases dominate as the primary site for metastasis, the existence of primary skin metastases is still under discussion but has been reported in only a few studies.
  
  
  OBJECTIVE
  We present two cases in which patients with a known history of uveal melanoma developed melanoma skin metastases.
  
  
  METHODS
  Mutational analysis was performed to clarify the origin of the metastases (uvea or skin).
  
  
  RESULTS
  The analyses revealed GNA11 mutations, which are typical for uveal melanoma. These cases strongly suggest the skin to be the primary site of uveal melanoma.
  
  
  CONCLUSIONS
  Knowledge about the mutational status of uveal melanomas opens the opportunity for future targeted therapies that directly interact with the mutation and its activated signal cascades. First trials in uveal melanoma have shown promising results with MEK inhibitors.
authors: Department of Dermatology, University Hospital of Muenster, Muenster, Germany. Athanasios.Tsianakas@ukmuenster.de
authors: A
authors: A
authors: Tsianakas
authors: M R R
authors: MR
authors: Böhm
authors: V
authors: V
authors: Getova
authors: D
authors: D
authors: Metze
authors: N
authors: N
authors: Eter
authors: T
authors: T
authors: Spieker
authors: A
authors: A
authors: Bräuninger
authors: T
authors: T
authors: Luger
authors: M
authors: M
authors: Schiller
authors: C
authors: C
authors: Sunderkötter
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D044385:GTP-Binding Protein alpha Subunits / Q000235:genetics*; D043802:GTP-Binding Protein alpha Subunits, Gq-G11; D006801:Humans; D008545:Melanoma / Q000235:genetics / Q000556:secondary*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D012878:Skin Neoplasms / Q000556:secondary*; D014604:Uveal Neoplasms / Q000235:genetics*; D000098943:Uveal Melanoma
chemical_list: C554062:GNA11 protein, human; C554061:GNAQ protein, human; D044385:GTP-Binding Protein alpha Subunits; D043802:GTP-Binding Protein alpha Subunits, Gq-G11