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A case report of metastatic giant sarcomatoid melanoma with BRAF V600E mutation: a complete response to targeted therapy

Sarcomatoid melanoma is an extremely rare pattern of malignant melanoma, and only few cases have been described throughout the literature. We herein report a case of a patient with newly diagnosed, metastatic giant sarcomatoid melanoma of the arm. The patient underwent surgical removal of the huge m...

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Autores principales: Torresetti, Matteo, Brancorsini, Donatella, Morgese, Francesca, Cognigni, Valeria, Scalise, Alessandro, Berardi, Rossana, Di Benedetto, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7456614/
https://www.ncbi.nlm.nih.gov/pubmed/32922664
http://dx.doi.org/10.18632/oncotarget.27701
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author Torresetti, Matteo
Brancorsini, Donatella
Morgese, Francesca
Cognigni, Valeria
Scalise, Alessandro
Berardi, Rossana
Di Benedetto, Giovanni
author_facet Torresetti, Matteo
Brancorsini, Donatella
Morgese, Francesca
Cognigni, Valeria
Scalise, Alessandro
Berardi, Rossana
Di Benedetto, Giovanni
author_sort Torresetti, Matteo
collection PubMed
description Sarcomatoid melanoma is an extremely rare pattern of malignant melanoma, and only few cases have been described throughout the literature. We herein report a case of a patient with newly diagnosed, metastatic giant sarcomatoid melanoma of the arm. The patient underwent surgical removal of the huge mass, and NGS sequencing demonstrated BRAF V600E mutation. In view of histological, immunohistochemical and molecular findings, a combined BRAF/MEK inhibitor (BRAF/MEK-i) therapy was prescribed as first line treatment. A complete response (over one year) to targeted therapy was obtained, and no adverse events have been reported. The patient maintained a full range of shoulder and elbow movements, and she is able to live independently and resume her daily activities. We therefore recommend that all patients with undifferentiated melanomas, sarcomatoid cutaneous malignancies or other mesenchymal tumours, should undergo BRAFV600E mutation testing.
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spelling pubmed-74566142020-09-11 A case report of metastatic giant sarcomatoid melanoma with BRAF V600E mutation: a complete response to targeted therapy Torresetti, Matteo Brancorsini, Donatella Morgese, Francesca Cognigni, Valeria Scalise, Alessandro Berardi, Rossana Di Benedetto, Giovanni Oncotarget Case Report Sarcomatoid melanoma is an extremely rare pattern of malignant melanoma, and only few cases have been described throughout the literature. We herein report a case of a patient with newly diagnosed, metastatic giant sarcomatoid melanoma of the arm. The patient underwent surgical removal of the huge mass, and NGS sequencing demonstrated BRAF V600E mutation. In view of histological, immunohistochemical and molecular findings, a combined BRAF/MEK inhibitor (BRAF/MEK-i) therapy was prescribed as first line treatment. A complete response (over one year) to targeted therapy was obtained, and no adverse events have been reported. The patient maintained a full range of shoulder and elbow movements, and she is able to live independently and resume her daily activities. We therefore recommend that all patients with undifferentiated melanomas, sarcomatoid cutaneous malignancies or other mesenchymal tumours, should undergo BRAFV600E mutation testing. Impact Journals LLC 2020-08-25 /pmc/articles/PMC7456614/ /pubmed/32922664 http://dx.doi.org/10.18632/oncotarget.27701 Text en http://creativecommons.org/licenses/by/3.0/ Copyright: Torresetti et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License 3.0 (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Case Report
Torresetti, Matteo
Brancorsini, Donatella
Morgese, Francesca
Cognigni, Valeria
Scalise, Alessandro
Berardi, Rossana
Di Benedetto, Giovanni
A case report of metastatic giant sarcomatoid melanoma with BRAF V600E mutation: a complete response to targeted therapy
title A case report of metastatic giant sarcomatoid melanoma with BRAF V600E mutation: a complete response to targeted therapy
title_full A case report of metastatic giant sarcomatoid melanoma with BRAF V600E mutation: a complete response to targeted therapy
title_fullStr A case report of metastatic giant sarcomatoid melanoma with BRAF V600E mutation: a complete response to targeted therapy
title_full_unstemmed A case report of metastatic giant sarcomatoid melanoma with BRAF V600E mutation: a complete response to targeted therapy
title_short A case report of metastatic giant sarcomatoid melanoma with BRAF V600E mutation: a complete response to targeted therapy
title_sort case report of metastatic giant sarcomatoid melanoma with braf v600e mutation: a complete response to targeted therapy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7456614/
https://www.ncbi.nlm.nih.gov/pubmed/32922664
http://dx.doi.org/10.18632/oncotarget.27701
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