BRAF V600E mutational load as a prognosis biomarker in malignant melanoma

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Date
2020-03-13
Author
Sevilla Mambrilla, Arrate ORCID
Morales González, María Celia
Ezcurra García Unzueta, Pilar Ariadna ORCID
Rasero, Javier
Velasco, Verónica
Cancho Galán, Goikoane
Sánchez Díez, Ana
Mujika, Karmele
Penas Lago, Cristina
Smith Zubiaga, Isabel
Asumendi Mallea, Aintzane ORCID
Cortés Díaz, Jesús María
Boyano López, María Dolores ORCID
Alonso Alegre, Santos ORCID
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Plos One 15(3) : (2020) // Article ID e0230136
URI
http://hdl.handle.net/10810/43904
Abstract
Analyzing the mutational load of driver mutations in melanoma could provide valuable information regarding its progression. We aimed at analyzing the heterogeneity of mutational load of BRAF V600E in biopsies of melanoma patients of different stages, and investigating its potential as a prognosis factor. Mutational load of BRAF V600E was analyzed by digital PCR in 78 biopsies of melanoma patients of different stages and 10 nevi. The BRAF V600E load was compared among biopsies of different stages. Results showed a great variability in the load of V600E (0%-81%). Interestingly, we observed a significant difference in the load of V600E between the early and late melanoma stages, in the sense of an inverse correlation between BRAF V600E mutational load and melanoma progression. In addition, a machine learning approach showed that the mutational load of BRAF V600E could be a good predictor of metastasis in stage II patients. Our results suggest that BRAF V600E is a promising biomarker of prognosis in stage II patients.
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2020 Sevilla et al. 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.
Except where otherwise noted, this item's license is described as 2020 Sevilla et al. 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.