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Primary Mucosal Melanoma of the Lip With GNA11 Mutation in a 23-Year-Old Pregnant Woman

Mucosal melanoma represents a small proportion of all melanoma cases and is associated with a worse prognosis. Primary malignant melanoma of the lip (PMML) is far less common, and only a few cases have been reported since 1997, most commonly in China, Japan, Uganda, and India. Most of these cases ha...

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Autores principales: Khatri, Shivam, Kashfi, Simon, Griffin, Stephanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10239609/
https://www.ncbi.nlm.nih.gov/pubmed/37284406
http://dx.doi.org/10.7759/cureus.38581
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author Khatri, Shivam
Kashfi, Simon
Griffin, Stephanie
author_facet Khatri, Shivam
Kashfi, Simon
Griffin, Stephanie
author_sort Khatri, Shivam
collection PubMed
description Mucosal melanoma represents a small proportion of all melanoma cases and is associated with a worse prognosis. Primary malignant melanoma of the lip (PMML) is far less common, and only a few cases have been reported since 1997, most commonly in China, Japan, Uganda, and India. Most of these cases have been associated with the gene C-KIT. As a result, treatment guidelines surrounding mucosal melanoma are unclear, especially in complicated populations such as pregnant women. Mutations in theGNAQ and GNA11 genes have been found to be associated with uveal melanoma, while they are rarely associated with mucosal melanoma. We present the case of a 23-year-old pregnant woman who was found to have likely primary malignant melanoma of the lip that metastasized to the left jaw, neck, breast, lungs, and ovaries and was found to be positive for both the BRAF-MLL3 and GNA11 mutation. 
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spelling pubmed-102396092023-06-05 Primary Mucosal Melanoma of the Lip With GNA11 Mutation in a 23-Year-Old Pregnant Woman Khatri, Shivam Kashfi, Simon Griffin, Stephanie Cureus Dermatology Mucosal melanoma represents a small proportion of all melanoma cases and is associated with a worse prognosis. Primary malignant melanoma of the lip (PMML) is far less common, and only a few cases have been reported since 1997, most commonly in China, Japan, Uganda, and India. Most of these cases have been associated with the gene C-KIT. As a result, treatment guidelines surrounding mucosal melanoma are unclear, especially in complicated populations such as pregnant women. Mutations in theGNAQ and GNA11 genes have been found to be associated with uveal melanoma, while they are rarely associated with mucosal melanoma. We present the case of a 23-year-old pregnant woman who was found to have likely primary malignant melanoma of the lip that metastasized to the left jaw, neck, breast, lungs, and ovaries and was found to be positive for both the BRAF-MLL3 and GNA11 mutation.  Cureus 2023-05-05 /pmc/articles/PMC10239609/ /pubmed/37284406 http://dx.doi.org/10.7759/cureus.38581 Text en Copyright © 2023, Khatri et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Dermatology
Khatri, Shivam
Kashfi, Simon
Griffin, Stephanie
Primary Mucosal Melanoma of the Lip With GNA11 Mutation in a 23-Year-Old Pregnant Woman
title Primary Mucosal Melanoma of the Lip With GNA11 Mutation in a 23-Year-Old Pregnant Woman
title_full Primary Mucosal Melanoma of the Lip With GNA11 Mutation in a 23-Year-Old Pregnant Woman
title_fullStr Primary Mucosal Melanoma of the Lip With GNA11 Mutation in a 23-Year-Old Pregnant Woman
title_full_unstemmed Primary Mucosal Melanoma of the Lip With GNA11 Mutation in a 23-Year-Old Pregnant Woman
title_short Primary Mucosal Melanoma of the Lip With GNA11 Mutation in a 23-Year-Old Pregnant Woman
title_sort primary mucosal melanoma of the lip with gna11 mutation in a 23-year-old pregnant woman
topic Dermatology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10239609/
https://www.ncbi.nlm.nih.gov/pubmed/37284406
http://dx.doi.org/10.7759/cureus.38581
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