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Predictive Evaluation on Cytological Sample of Metastatic Melanoma: The Role of BRAF Immunocytochemistry in the Molecular Era

Background: Cutaneous malignant melanoma is an aggressive neoplasm. In advanced cases, the therapeutic choice depends on the mutational status of BRAF. Fine needle aspiration cytology (FNA) is often applied to the management of patients affected by melanoma, mainly for the diagnosis of metastases. T...

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Autores principales: Ronchi, Andrea, Montella, Marco, Zito Marino, Federica, Caraglia, Michele, Grimaldi, Anna, Argenziano, Giuseppe, Moscarella, Elvira, Brancaccio, Gabriella, Troiani, Teresa, Napolitano, Stefania, Franco, Renato, Cozzolino, Immacolata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8235421/
https://www.ncbi.nlm.nih.gov/pubmed/34207125
http://dx.doi.org/10.3390/diagnostics11061110
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author Ronchi, Andrea
Montella, Marco
Zito Marino, Federica
Caraglia, Michele
Grimaldi, Anna
Argenziano, Giuseppe
Moscarella, Elvira
Brancaccio, Gabriella
Troiani, Teresa
Napolitano, Stefania
Franco, Renato
Cozzolino, Immacolata
author_facet Ronchi, Andrea
Montella, Marco
Zito Marino, Federica
Caraglia, Michele
Grimaldi, Anna
Argenziano, Giuseppe
Moscarella, Elvira
Brancaccio, Gabriella
Troiani, Teresa
Napolitano, Stefania
Franco, Renato
Cozzolino, Immacolata
author_sort Ronchi, Andrea
collection PubMed
description Background: Cutaneous malignant melanoma is an aggressive neoplasm. In advanced cases, the therapeutic choice depends on the mutational status of BRAF. Fine needle aspiration cytology (FNA) is often applied to the management of patients affected by melanoma, mainly for the diagnosis of metastases. The evaluation of BRAF mutational status by sequencing technique on cytological samples may be inconvenient, as it is a time and biomaterial-consuming technique. Recently, BRAF immunocytochemistry (ICC) was applied for the evaluation of BRAF V600E mutational status. Although it may be useful mainly in cytological samples, data about BRAF ICC on cytological samples are missing. Methods: We performed BRAF ICC on a series of 50 FNA samples of metastatic melanoma. BRAF molecular analysis was performed on the same cytological samples or on the corresponding histological samples. Molecular analysis was considered the gold standard. Results: BRAF ICC results were adequate in 49 out of 50 (98%) cases, positive in 15 out of 50 (30%) cases and negative in 34 out of 50 (68%) of cases. Overall, BRAF ICC sensitivity, specificity, positive predictive value and negative predictive value results were 88.2%, 100%, 100% and 94.1%, respectively. The diagnostic performance of BRAF ICC results was perfect when molecular evaluation was performed on the same cytological samples. Hyperpigmentation represents the main limitation of the technique. Conclusions: BRAF ICC is a rapid, cost-effective method for detecting BRAF V600E mutation in melanoma metastases, applicable with high diagnostic performance to cytological samples. It could represent the first step to evaluate BRAF mutational status in cytological samples, mainly in poorly cellular cases.
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spelling pubmed-82354212021-06-27 Predictive Evaluation on Cytological Sample of Metastatic Melanoma: The Role of BRAF Immunocytochemistry in the Molecular Era Ronchi, Andrea Montella, Marco Zito Marino, Federica Caraglia, Michele Grimaldi, Anna Argenziano, Giuseppe Moscarella, Elvira Brancaccio, Gabriella Troiani, Teresa Napolitano, Stefania Franco, Renato Cozzolino, Immacolata Diagnostics (Basel) Article Background: Cutaneous malignant melanoma is an aggressive neoplasm. In advanced cases, the therapeutic choice depends on the mutational status of BRAF. Fine needle aspiration cytology (FNA) is often applied to the management of patients affected by melanoma, mainly for the diagnosis of metastases. The evaluation of BRAF mutational status by sequencing technique on cytological samples may be inconvenient, as it is a time and biomaterial-consuming technique. Recently, BRAF immunocytochemistry (ICC) was applied for the evaluation of BRAF V600E mutational status. Although it may be useful mainly in cytological samples, data about BRAF ICC on cytological samples are missing. Methods: We performed BRAF ICC on a series of 50 FNA samples of metastatic melanoma. BRAF molecular analysis was performed on the same cytological samples or on the corresponding histological samples. Molecular analysis was considered the gold standard. Results: BRAF ICC results were adequate in 49 out of 50 (98%) cases, positive in 15 out of 50 (30%) cases and negative in 34 out of 50 (68%) of cases. Overall, BRAF ICC sensitivity, specificity, positive predictive value and negative predictive value results were 88.2%, 100%, 100% and 94.1%, respectively. The diagnostic performance of BRAF ICC results was perfect when molecular evaluation was performed on the same cytological samples. Hyperpigmentation represents the main limitation of the technique. Conclusions: BRAF ICC is a rapid, cost-effective method for detecting BRAF V600E mutation in melanoma metastases, applicable with high diagnostic performance to cytological samples. It could represent the first step to evaluate BRAF mutational status in cytological samples, mainly in poorly cellular cases. MDPI 2021-06-18 /pmc/articles/PMC8235421/ /pubmed/34207125 http://dx.doi.org/10.3390/diagnostics11061110 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Ronchi, Andrea
Montella, Marco
Zito Marino, Federica
Caraglia, Michele
Grimaldi, Anna
Argenziano, Giuseppe
Moscarella, Elvira
Brancaccio, Gabriella
Troiani, Teresa
Napolitano, Stefania
Franco, Renato
Cozzolino, Immacolata
Predictive Evaluation on Cytological Sample of Metastatic Melanoma: The Role of BRAF Immunocytochemistry in the Molecular Era
title Predictive Evaluation on Cytological Sample of Metastatic Melanoma: The Role of BRAF Immunocytochemistry in the Molecular Era
title_full Predictive Evaluation on Cytological Sample of Metastatic Melanoma: The Role of BRAF Immunocytochemistry in the Molecular Era
title_fullStr Predictive Evaluation on Cytological Sample of Metastatic Melanoma: The Role of BRAF Immunocytochemistry in the Molecular Era
title_full_unstemmed Predictive Evaluation on Cytological Sample of Metastatic Melanoma: The Role of BRAF Immunocytochemistry in the Molecular Era
title_short Predictive Evaluation on Cytological Sample of Metastatic Melanoma: The Role of BRAF Immunocytochemistry in the Molecular Era
title_sort predictive evaluation on cytological sample of metastatic melanoma: the role of braf immunocytochemistry in the molecular era
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8235421/
https://www.ncbi.nlm.nih.gov/pubmed/34207125
http://dx.doi.org/10.3390/diagnostics11061110
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