Prognostic Values of G-Protein Mutations in Metastatic Uveal Melanoma
Uveal melanoma is the most common primary ocular malignancy in adults, characterized by gene mutations in G protein subunit alpha q (<i>GNAQ</i>) and G protein subunit alpha 11 (<i>GNA11</i>). Although they are considered to be driver mutations, their role in MUM remains elus...
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| Autores principales: | , , , , , , , , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
MDPI AG
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/86a4c271f81742bab04b74ded1bf5119 |
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| Sumario: | Uveal melanoma is the most common primary ocular malignancy in adults, characterized by gene mutations in G protein subunit alpha q (<i>GNAQ</i>) and G protein subunit alpha 11 (<i>GNA11</i>). Although they are considered to be driver mutations, their role in MUM remains elusive. We investigated key somatic mutations of MUM and their impact on patients’ survival after development of systemic metastasis (Met-to-Death). Metastatic lesions from 87 MUM patients were analyzed by next generation sequencing (NGS). <i>GNA11</i> (41/87) and <i>GNAQ</i> (39/87) mutations were most predominantly seen in MUM. Most <i>GNA11</i> mutations were Q209L (36/41), whereas <i>GNAQ</i> mutations comprised Q209L (14/39) and Q209P (21/39). Epigenetic pathway mutations <i>BAP1</i> (42/66), <i>SF3B1</i> (11/66), <i>FBXW7</i> (2/87), <i>PBRM1</i> (1/66), and <i>SETD2</i> (1/66) were found. No specimen had the EIF1AX mutation. Interestingly, Met-to-Death was longer in patients with <i>GNAQ</i> Q209P compared to <i>GNAQ/GNA11</i> Q209L mutations, suggesting the difference in mutation type in <i>GNAQ/GNA11</i> might determine the prognosis of MUM. Structural alterations of the GNAQ/GNA11 protein and their impact on survival of MUM patients should be further investigated. |
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