BRAF V600E mutational load as a prognosis biomarker in malignant melanoma
| Autor: | Javier Rasero, Karmele Mujika, M. Celia Morales, Goikoane Cancho-Galan, P.A. Ezkurra, Ana Sánchez-Diez, Isabel Smith, María Dolores Boyano, Arrate Sevilla, Santos Alonso, Cristina Penas, Verónica Velasco, Aintzane Asumendi, Jesus M. Cortes |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Oncology Male Melanomas Skin Neoplasms Biopsy DNA Mutational Analysis Artificial Gene Amplification and Extension Polymerase Chain Reaction Metastasis Machine Learning 0302 clinical medicine Basic Cancer Research Medicine and Health Sciences Group-Specific Staining Medicine Digital polymerase chain reaction Neoplasm Metastasis Melanoma Aged 80 and over Staining Nevus Pigmented Multidisciplinary medicine.diagnostic_test digital PCR Middle Aged Prognosis 030220 oncology & carcinogenesis Biomarker (medicine) Female Research Article Adult Proto-Oncogene Proteins B-raf medicine.medical_specialty Computer and Information Sciences Science Surgical and Invasive Medical Procedures Research and Analysis Methods 03 medical and health sciences Diagnostic Medicine Artificial Intelligence Internal medicine Biomarkers Tumor Nevus Humans Molecular Biology Techniques neoplasms Immunohistochemistry Techniques Molecular Biology Aged business.industry Hematoxylin Staining Cancers and Neoplasms Biology and Life Sciences medicine.disease digestive system diseases Histochemistry and Cytochemistry Techniques 030104 developmental biology Specimen Preparation and Treatment Cutaneous melanoma Mutation Immunologic Techniques business V600E |
| Zdroj: | PLoS ONE Addi. Archivo Digital para la Docencia y la Investigación instname Addi: Archivo Digital para la Docencia y la Investigación Universidad del País Vasco PLoS ONE, Vol 15, Iss 3, p e0230136 (2020) |
| ISSN: | 1932-6203 |
| Popis: | 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. This research was supported by the Basque Government (grants ELKARTEK-KK2016-036 and KK2017-041 to MDB, grant IT1138-16 to SA and predoctoral fellowship PRE_2014_1_419 to AS), and by the University of the Basque Country (UPV/EHU) (grant GIU17/066). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. |
| Databáze: | OpenAIRE |
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