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GNA11 Mutation in a Patient With Cutaneous Origin Melanoma: A Case Report
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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291549/ https://www.ncbi.nlm.nih.gov/pubmed/26825879 http://dx.doi.org/10.1097/MD.0000000000002336 |
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author | Patel, Sapna P. Kim, Dae Won Lacey, Carol L. Hwu, Patrick |
author_facet | Patel, Sapna P. Kim, Dae Won Lacey, Carol L. Hwu, Patrick |
author_sort | Patel, Sapna P. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-5291549 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Wolters Kluwer Health |
record_format | MEDLINE/PubMed |
spelling | pubmed-52915492017-02-09 GNA11 Mutation in a Patient With Cutaneous Origin Melanoma: A Case Report Patel, Sapna P. Kim, Dae Won Lacey, Carol L. Hwu, Patrick Medicine (Baltimore) 5700 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. Wolters Kluwer Health 2016-01-29 /pmc/articles/PMC5291549/ /pubmed/26825879 http://dx.doi.org/10.1097/MD.0000000000002336 Text en Copyright © 2016 Wolters Kluwer Health, Inc. All rights reserved. http://creativecommons.org/licenses/by-nd/4.0 This is an open access article distributed under the Creative Commons Attribution-NoDerivatives License 4.0, which allows for redistribution, commercial and non-commercial, as long as it is passed along unchanged and in whole, with credit to the author. http://creativecommons.org/licenses/by-nd/4.0 |
spellingShingle | 5700 Patel, Sapna P. Kim, Dae Won Lacey, Carol L. Hwu, Patrick GNA11 Mutation in a Patient With Cutaneous Origin Melanoma: A Case Report |
title | GNA11 Mutation in a Patient With Cutaneous Origin Melanoma: A Case Report |
title_full | GNA11 Mutation in a Patient With Cutaneous Origin Melanoma: A Case Report |
title_fullStr | GNA11 Mutation in a Patient With Cutaneous Origin Melanoma: A Case Report |
title_full_unstemmed | GNA11 Mutation in a Patient With Cutaneous Origin Melanoma: A Case Report |
title_short | GNA11 Mutation in a Patient With Cutaneous Origin Melanoma: A Case Report |
title_sort | gna11 mutation in a patient with cutaneous origin melanoma: a case report |
topic | 5700 |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291549/ https://www.ncbi.nlm.nih.gov/pubmed/26825879 http://dx.doi.org/10.1097/MD.0000000000002336 |
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