Sporadic Metastatic Malignant Peripheral Nerve Sheath Tumour with an NF1 Mutation Responding to Trametinib: A Case Report

Sporadically occurring malignant peripheral nerve sheath tumours (MPNSTs) can have a variety of genomic alterations including altered NF1, leading to activation of the RAS-RAF-MEK-ERK signalling pathway. Trametinib is an inhibitor of MEK1 and MEK2. Here we present a case of a patient diagnosed with...

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Autores principales: Hitchen, Nadia, Cross, Matthew, Laking, George, Connor, Joanna, Korenbaum, Clement
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Author(s). Published by S. Karger AG 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9893996/
https://www.ncbi.nlm.nih.gov/pubmed/36743881
http://dx.doi.org/10.1159/000528743
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author Hitchen, Nadia
Cross, Matthew
Laking, George
Connor, Joanna
Korenbaum, Clement
author_facet Hitchen, Nadia
Cross, Matthew
Laking, George
Connor, Joanna
Korenbaum, Clement
author_sort Hitchen, Nadia
collection PubMed
description Sporadically occurring malignant peripheral nerve sheath tumours (MPNSTs) can have a variety of genomic alterations including altered NF1, leading to activation of the RAS-RAF-MEK-ERK signalling pathway. Trametinib is an inhibitor of MEK1 and MEK2. Here we present a case of a patient diagnosed with sporadic MPNST with an identified NF1 gene treated successfully with trametinib.
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spelling pubmed-98939962023-02-03 Sporadic Metastatic Malignant Peripheral Nerve Sheath Tumour with an NF1 Mutation Responding to Trametinib: A Case Report Hitchen, Nadia Cross, Matthew Laking, George Connor, Joanna Korenbaum, Clement Case Rep Oncol Case Report Sporadically occurring malignant peripheral nerve sheath tumours (MPNSTs) can have a variety of genomic alterations including altered NF1, leading to activation of the RAS-RAF-MEK-ERK signalling pathway. Trametinib is an inhibitor of MEK1 and MEK2. Here we present a case of a patient diagnosed with sporadic MPNST with an identified NF1 gene treated successfully with trametinib. The Author(s). Published by S. Karger AG 2023-01-12 /pmc/articles/PMC9893996/ /pubmed/36743881 http://dx.doi.org/10.1159/000528743 Text en © 2023 The Author(s). Published by S. Karger AG, Basel https://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
Hitchen, Nadia
Cross, Matthew
Laking, George
Connor, Joanna
Korenbaum, Clement
Sporadic Metastatic Malignant Peripheral Nerve Sheath Tumour with an NF1 Mutation Responding to Trametinib: A Case Report
title Sporadic Metastatic Malignant Peripheral Nerve Sheath Tumour with an NF1 Mutation Responding to Trametinib: A Case Report
title_full Sporadic Metastatic Malignant Peripheral Nerve Sheath Tumour with an NF1 Mutation Responding to Trametinib: A Case Report
title_fullStr Sporadic Metastatic Malignant Peripheral Nerve Sheath Tumour with an NF1 Mutation Responding to Trametinib: A Case Report
title_full_unstemmed Sporadic Metastatic Malignant Peripheral Nerve Sheath Tumour with an NF1 Mutation Responding to Trametinib: A Case Report
title_short Sporadic Metastatic Malignant Peripheral Nerve Sheath Tumour with an NF1 Mutation Responding to Trametinib: A Case Report
title_sort sporadic metastatic malignant peripheral nerve sheath tumour with an nf1 mutation responding to trametinib: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9893996/
https://www.ncbi.nlm.nih.gov/pubmed/36743881
http://dx.doi.org/10.1159/000528743
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