Melanoma Research · 2017 · 14 citations · 15 references
MedicineMolecular GeneticsOncologyCancer GeneticsMolecular OncologyNeoplasiaMalignant NeoplasmsMelanoma PharmacotherapyTargeted Cancer TherapyBraf V600 MutationsBraf V600e MutationMapk Pathway MutationsMek InhibitionMek InhibitorsMetastatic Melanoma TreatmentMitogen-activated Protein Kinase CascadesOncogenic Braf Signaling
Concurrent BRAF-MEK inhibition improves clinical outcomes in patients with advanced BRAF V600E/K-mutant melanoma. There is currently less evidence for the efficacy of this treatment in patients with rare BRAF non-V600E/K genotypes. We report on two patients with rare BRAF exon 15 mutations - BRAF A598_T599insV and V600_K601delinsE - obtaining clinical benefit and a radiological response to inhibitors directed against the mitogen-activated protein kinase pathway. This highlights the importance of using tests that detect both V600E/K and non-V600E/K BRAF mutations to keep open the possibility of treatment with targeted therapy in patients with uncommon, yet potentially actionable, BRAF exon 15 mutations.
15
Mutations of the BRAF gene in human cancer
Helen Davies, Graham R. Bignell, Charles Cox et al. · Nature · 2002 · 10.7K citations