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

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

Marie Boileau  1   2   3 , Clotilde Descarpentries  2   4 , Guillaume Delzenne  1   3 , Victorine Trentesaux  1 , Anna Greliak  1   2 , Philippe Jamme  1   2 , Philippe Marchetti  2   3   5 , Laurent Mortier  1   2
Affiliations
Case Reports

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

Marie Boileau et al. Melanoma Res. .

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.

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