title: GNA11 Mutation in a Patient With Cutaneous Origin Melanoma: A Case Report.
abstract: The rapid advances in the molecular biology and genetics have improved the understanding of molecular pathogenesis of v-Raf murine sarcoma viral oncogene homolog B (BRAF), feline sarcoma viral oncogene v-kit (KIT), and neuroblastoma v-Ras oncogene homolog (NRAS) mutant melanomas with the subsequent development of targeted therapeutic agents. However, only limited data are available for melanoma harboring other somatic than BRAF, KIT, and NRAS mutations. Mutations in guanine nucleotide-binding protein Q polypeptide (GNAQ) and guanine nucleotide-binding protein alpha-11 (GNA11), alpha subunits of heterotrimeric G proteins, constitutively activate mitogen-activated protein kinase (MAPK) pathway in uveal melanoma. However, there are no reports of GNA11 mutations in cutaneous melanomas. A 48-year-old woman was diagnosed with cutaneous nodular melanoma on the left scalp. Mutation analysis of the tumor revealed a GNA11 Q209L mutation. There was no evidence of uveal melanoma or malignant blue nevus in ophthalmologic exam, imaging studies, and pathology review. To our knowledge, this is the first case report to demonstrate cutaneous origin melanoma harboring a GNA11 Q209L mutation.
authors.affiliation: From the Department of Melanoma Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX.
authors.forename: Sapna P
authors.initials: SP
authors.lastname: Patel
authors.forename: Dae Won
authors.initials: DW
authors.lastname: Kim
authors.forename: Carol L
authors.initials: CL
authors.lastname: Lacey
authors.forename: Patrick
authors.initials: P
authors.lastname: Hwu
mesh_terms: D005260:Female; D044385:GTP-Binding Protein alpha Subunits / Q000235:genetics*; D006258:Head and Neck Neoplasms / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008113:Liver Neoplasms / Q000235:genetics* / Q000556:secondary; D008175:Lung Neoplasms / Q000556:secondary*; D008207:Lymphatic Metastasis; D008545:Melanoma / Q000235:genetics* / Q000556:secondary; D008875:Middle Aged; D012535:Scalp; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: C554062:GNA11 protein, human; D044385:GTP-Binding Protein alpha Subunits
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