Sporadic Metastatic Malignant Peripheral Nerve Sheath Tumour with an NF1 Mutation Responding to Trametinib: A Case Report
oleh: Nadia Hitchen, Matthew Cross, George Laking, Joanna Connor, Clement Korenbaum
| Format: | Article |
|---|---|
| Diterbitkan: | Karger Publishers 2023-01-01 |
Deskripsi
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.