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Two Case Reports of Rare BRAF Mutations in Exon 11 and Exon 15 with Discussion of Potential Treatment Options
BRAF mutations occur in up to 50% of melanomas. Mutations in the BRAF gene directly influence the patient's treatment because several inhibitors are available that only target BRAF(V600) mutations. Herein, we describe two cases of patients with metastatic melanomas, each carrying a ‘nonstandard...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5075727/ https://www.ncbi.nlm.nih.gov/pubmed/27790118 http://dx.doi.org/10.1159/000449125 |
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author | Richtig, Georg Aigelsreiter, Ariane Kashofer, Karl Talakic, Emina Kupsa, Romana Schaider, Helmut Richtig, Erika |
author_facet | Richtig, Georg Aigelsreiter, Ariane Kashofer, Karl Talakic, Emina Kupsa, Romana Schaider, Helmut Richtig, Erika |
author_sort | Richtig, Georg |
collection | PubMed |
description | BRAF mutations occur in up to 50% of melanomas. Mutations in the BRAF gene directly influence the patient's treatment because several inhibitors are available that only target BRAF(V600) mutations. Herein, we describe two cases of patients with metastatic melanomas, each carrying a ‘nonstandard’ mutation in the BRAF gene: BRAF(K601E) and BRAF(G466E), respectively. The first patient was treated with a MEK inhibitor and the second one with ipilimumab. However, not all BRAF mutations result in increased BRAF kinase activity, and clinical data for ‘nonstandard’ mutations, such as those described in our case report, are sparse. Therefore, treatment with MEK inhibitors can be helpful in cases where BRAF mutations result in increased activity, whereas immune checkpoint inhibitors might be used in cases where the mutations lead to activity levels below those of the wild type. |
format | Online Article Text |
id | pubmed-5075727 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | S. Karger AG |
record_format | MEDLINE/PubMed |
spelling | pubmed-50757272016-10-27 Two Case Reports of Rare BRAF Mutations in Exon 11 and Exon 15 with Discussion of Potential Treatment Options Richtig, Georg Aigelsreiter, Ariane Kashofer, Karl Talakic, Emina Kupsa, Romana Schaider, Helmut Richtig, Erika Case Rep Oncol Case Report BRAF mutations occur in up to 50% of melanomas. Mutations in the BRAF gene directly influence the patient's treatment because several inhibitors are available that only target BRAF(V600) mutations. Herein, we describe two cases of patients with metastatic melanomas, each carrying a ‘nonstandard’ mutation in the BRAF gene: BRAF(K601E) and BRAF(G466E), respectively. The first patient was treated with a MEK inhibitor and the second one with ipilimumab. However, not all BRAF mutations result in increased BRAF kinase activity, and clinical data for ‘nonstandard’ mutations, such as those described in our case report, are sparse. Therefore, treatment with MEK inhibitors can be helpful in cases where BRAF mutations result in increased activity, whereas immune checkpoint inhibitors might be used in cases where the mutations lead to activity levels below those of the wild type. S. Karger AG 2016-09-22 /pmc/articles/PMC5075727/ /pubmed/27790118 http://dx.doi.org/10.1159/000449125 Text en Copyright © 2016 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/4.0/ This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission. |
spellingShingle | Case Report Richtig, Georg Aigelsreiter, Ariane Kashofer, Karl Talakic, Emina Kupsa, Romana Schaider, Helmut Richtig, Erika Two Case Reports of Rare BRAF Mutations in Exon 11 and Exon 15 with Discussion of Potential Treatment Options |
title | Two Case Reports of Rare BRAF Mutations in Exon 11 and Exon 15 with Discussion of Potential Treatment Options |
title_full | Two Case Reports of Rare BRAF Mutations in Exon 11 and Exon 15 with Discussion of Potential Treatment Options |
title_fullStr | Two Case Reports of Rare BRAF Mutations in Exon 11 and Exon 15 with Discussion of Potential Treatment Options |
title_full_unstemmed | Two Case Reports of Rare BRAF Mutations in Exon 11 and Exon 15 with Discussion of Potential Treatment Options |
title_short | Two Case Reports of Rare BRAF Mutations in Exon 11 and Exon 15 with Discussion of Potential Treatment Options |
title_sort | two case reports of rare braf mutations in exon 11 and exon 15 with discussion of potential treatment options |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5075727/ https://www.ncbi.nlm.nih.gov/pubmed/27790118 http://dx.doi.org/10.1159/000449125 |
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