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

一名23岁孕妇的唇部原发性黏膜黑色素瘤伴GNA11基因突变

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Abstract

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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