Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Richtig, Georg, Aigelsreiter, Ariane, Kashofer, Karl, Talakic, Emina, Kupsa, Romana, Schaider, Helmut, Richtig, Erika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2016
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
_version_ 1782461920439173120
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
work_keys_str_mv AT richtiggeorg twocasereportsofrarebrafmutationsinexon11andexon15withdiscussionofpotentialtreatmentoptions
AT aigelsreiterariane twocasereportsofrarebrafmutationsinexon11andexon15withdiscussionofpotentialtreatmentoptions
AT kashoferkarl twocasereportsofrarebrafmutationsinexon11andexon15withdiscussionofpotentialtreatmentoptions
AT talakicemina twocasereportsofrarebrafmutationsinexon11andexon15withdiscussionofpotentialtreatmentoptions
AT kupsaromana twocasereportsofrarebrafmutationsinexon11andexon15withdiscussionofpotentialtreatmentoptions
AT schaiderhelmut twocasereportsofrarebrafmutationsinexon11andexon15withdiscussionofpotentialtreatmentoptions
AT richtigerika twocasereportsofrarebrafmutationsinexon11andexon15withdiscussionofpotentialtreatmentoptions