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K601E BRAF Mutation

Forums General Melanoma Community K601E BRAF Mutation

  • Post
    THMoore
    Participant
      I’m am BRAF – for the V600 but positive for the K601E BRAF gene. I am researching and am wondering if anyone in this Forum has the K601E gene? If so, what treatments have you and how are you doing?
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    • Replies
        Bubbles
        Participant
          You may find this report interesting: https://ehoonline.biomedcentral.com/articles/10.1186/s40164-017-0067-4

          Metastatic BRAF K601E-mutated melanoma reaches complete response to MEK inhibitor trametinib administered for over 36 months
          Riccardo Marconcini, Luca Galli, Andrea Antonuzzo, Simona Bursi, Claudia Roncella, Gabriella Fontanini, Elisa Sensi & Alfredo Falcone
          Experimental Hematology & Oncology volume 6, Article number: 6 (2017)

          Background
          The BRAF K601E mutation occurs in 5% of patients with melanoma, and is the third most common type of BRAF mutation. However, treatment with BRAF and mitogen-activated extracellular signal-regulated kinase (MEK) inhibitors is only approved in patients with BRAF V600-positive melanoma, and patients with K601E-mutated melanoma do not have access to such drugs.

          Case presentation
          A female patient was diagnosed with high tumor burden metastatic melanoma harboring the BRAF K601E mutation. After chemotherapy failure, she underwent compassionate treatment with trametinib. Trametinib showed good activity and efficacy, with 48% shrinkage of a metastatic lymphadenopathy after 4 months’ treatment. However, the patient reported treatment-related skin toxicity that required dosage reduction and a personalized intermittent trametinib dosing schedule. After over 36 months from the first trametinib administration, and resection of a metastatic lymphadenopathy, the patient experienced complete response.

          Conclusions
          This case report shows that trametinib could be a valid therapeutic option in patients with metastatic melanoma harboring the rare BRAF K601E mutation.

          For what it’s worth. C

          Bubbles
          Participant
            There is also this from 2019: https://pubmed.ncbi.nlm.nih.gov/30248172/

            Br J Dermatol
            . 2019 Feb;180(2):421-422. doi: 10.1111/bjd.17250. Epub 2018 Nov 22.
            Dabrafenib plus trametinib in BRAF K601E-mutant melanoma
            A Rogiers 1 2, D Thomas 3, S Vander Borght 4 5, J J van den Oord 5, O Bechter 6, M Dewaele 1 2, F Rambow 1 2, J-C Marine 1 2, P Wolter 7
            Affiliations collapse
            Affiliations
            1Laboratory for Molecular Cancer Biology, Center for Cancer Biology, VIB, Leuven, Belgium.
            2Laboratory for Molecular Cancer Biology, Department of Oncology, KU Leuven, Leuven, Belgium.
            3Laboratory for Therapeutic and Diagnostic Antibodies/PharmAbs, KU Leuven, Leuven, Belgium.
            4Department of Human Genetics, Center for Human Genetics, KU Leuven, Leuven, Belgium.
            5Department of Pathology, University Hospitals, KU Leuven, Leuven, Belgium.
            6Department of General Medical Oncology, KU Leuven, Leuven, Belgium.
            7Department of Hematology and Medical Oncology, CHR East Belgium, Verviers, Belgium.

            If you are interested in these reports you can always have your onc get them, pay for them yourself, have your doc call/contact the docs who did the research – or reach out to them yourself. If you have questions – it NEVER hurts to ask! c

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