Clinical response under MEK inhibitor alone in metastatic melanoma with a novel fusion involving the RAF1 gene

Melanoma Res. 2023 Jun 1;33(3):247-251. doi: 10.1097/CMR.0000000000000882. Epub 2023 Mar 3.

Abstract

Currently, in the absence of BRAFV600 mutation, the management of advanced melanomas is based on immunotherapies, but only half of the patients are responders. RAF1 (also named CRAF) fusions occur in 1-2.1% of wild-type melanomas. Preclinical data suggest that the presence of RAF fusion may be sensitive to MEK inhibitors. We report the case of a patient with an advanced melanoma harboring an EFCC1-RAF1 fusion who showed a clinical benefit from and a partial response to a MEK inhibitor.

Publication types

  • Case Reports

MeSH terms

  • Humans
  • Melanoma* / drug therapy
  • Melanoma* / genetics
  • Melanoma* / pathology
  • Mitogen-Activated Protein Kinase Kinases
  • Mutation
  • Protein Kinase Inhibitors / pharmacology
  • Protein Kinase Inhibitors / therapeutic use
  • Proto-Oncogene Proteins B-raf / genetics
  • Proto-Oncogene Proteins B-raf / therapeutic use
  • Skin Neoplasms* / drug therapy
  • Skin Neoplasms* / genetics
  • Skin Neoplasms* / pathology

Substances

  • Protein Kinase Inhibitors
  • Mitogen-Activated Protein Kinase Kinases
  • Proto-Oncogene Proteins B-raf