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

Nadia Hitchen; Matthew Cross; George Laking; Joanna Connor; Clement Korenbaum

doi:10.1159/000528743

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

Case Rep Oncol. 2023 Jan 12;16(1):1-6. doi: 10.1159/000528743. eCollection 2023 Jan-Dec.

Authors

Nadia Hitchen^{1

2}, Matthew Cross¹, George Laking^{1

2}, Joanna Connor¹, Clement Korenbaum¹

Affiliations

¹ Medical Oncology Department, Auckland City Hospital, Te Pūriri o Te Ora, Auckland, New Zealand.
² Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.

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.

Keywords: Malignant peripheral nerve sheath tumour; NF1; Trametinib.

Publication types

Case Reports

Grants and funding

Funding was not required; hence, funders had no role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript.