ArticleBMJ case reports2021
SKAP2-BRAF fusion and response to an MEK inhibitor in a patient with metastatic melanoma resistant to immunotherapy.
Article in BMJ case reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 9 citations in OpenAlex.
- A Complete Response to Immunotherapy in a Patient with Locally Advanced Squamous Cell Lung Cancer Harboring a NovelDiagnostics (Basel, Switzerland) · 2026Article
- MEK inhibitors for the treatment of immunotherapy-resistant, AGK-BRAF fusion advanced acral melanoma: a case report and literature review.Journal of cancer research and clinical oncology · 2025Review
- Combined RET and MEK Inhibition as a Treatment forJTO clinical and research reports · 2024Article
- Long-term response to MEK inhibitor monotherapy in a patient with papillary thyroid carcinoma harboringInternational cancer conference journal · 2024Article
- New Approaches to Targeted Therapy in Melanoma.Cancers · 2023Review
- Rapid response to monotherapy with MEK inhibitor trametinib for a lung adenocarcinoma patient harboring primaryFrontiers in oncology · 2022Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A woman in her 40s presented to the emergency department with headache and unintentional weight loss in September 2018. Investigations revealed a widely metastatic pan-negative melanoma of unknown primary. She had multiple lines of treatment including combination immunotherapy and chemotherapy. Next-generation sequencing identified an SKAP2-BRAF fusion protein, and she was commenced on an MEK inhibitor in September 2019 with a partial response seen on restaging scans after 6 weeks and a dramatic fall in her lactate dehydrogenase from 2248 IU/L to 576 IU/L. Unfortunately, the response was not maintained and she died from progression of her cancer in January 2020. SKAP2-BRAF fusions have a dimerisation domain that paradoxically activates the mitogen-activated protein kinase pathway, resulting in hyperproliferation if first-generation or second-generation BRAF inhibitors are used. Our knowledge is limited regarding the complex effects of targeted therapy in rare BRAF fusion proteins.
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Registered trials
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