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

Abstract 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 diagno...

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Veröffentlicht in:Case Reports in Oncology 2023-01, Vol.16 (1), p.1-6
Hauptverfasser: Hitchen, Nadia, Cross, Matthew, Laking, George, Connor, Joanna, Korenbaum, Clement
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Sprache:eng
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Zusammenfassung:Abstract 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.
ISSN:1662-6575
1662-6575
DOI:10.1159/000528743