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Updated: May 20, 2025

Analysis of Lymph Node Volume by Ultra-High-Frequency Ultrasound Imaging in the Braf/Pten Genetically Engineered Mouse Model of Melanoma
Published on: September 8, 2021
Two cases of advanced melanoma with BRAF L597 mutation: Options for systemic treatment
Ryo Amagai1, Taku Fujimura1, Yumi Kambayashi1
1Department of Dermatology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Abstract:
The combination of BRAF and MEK kinase inhibitors is a well-established treatment for BRAF V600-mutated advanced melanoma. However, the efficacy of these therapies against less common BRAF mutations, such as BRAF L597, remains unclear. We report two cases of advanced melanoma harboring the BRAF L597 mutation. In the first case, a 77-year-old man with metastatic melanoma achieved complete remission following combination therapy with nivolumab and ipilimumab. In the second case, a 50-year-old woman with metastatic melanoma exhibited resistance to multiple systemic therapies, including nivolumab, ipilimumab, and targeted therapy with encorafenib and binimetinib. These cases highlight the variable therapeutic responses in melanoma with the BRAF L597 mutation, suggesting that immune checkpoint inhibitors may be a viable first-line treatment, particularly for patients with a high tumor mutational burden. Further studies are needed to establish optimal treatment strategies for this rare mutation.
Insights
Advanced melanoma with rare BRAF L597 mutations shows varied responses to treatment. Immune checkpoint inhibitors may be effective first-line options for BRAF L597 melanoma, warranting further investigation.
Area of Science:
- Oncology
- Dermatology
- Genetics
Background:
- BRAF and MEK kinase inhibitors are standard for BRAF V600-mutated advanced melanoma.
- Efficacy of these inhibitors against rare BRAF mutations, like BRAF L597, is not well-defined.
Purpose of the Study:
- To investigate the clinical outcomes of advanced melanoma patients with the BRAF L597 mutation.
- To explore potential treatment strategies for this rare BRAF mutation.
Main Methods:
- Case report of two patients with advanced melanoma harboring the BRAF L597 mutation.
- Review of treatment responses to combination immunotherapy (nivolumab and ipilimumab) and targeted therapy (encorafenib and binimetinib).
Main Results:
- One patient achieved complete remission with nivolumab and ipilimumab.
- Another patient showed resistance to nivolumab, ipilimumab, encorafenib, and binimetinib.
- Therapeutic responses to BRAF L597 mutations are variable.
Conclusions:
- Immune checkpoint inhibitors may represent a viable first-line treatment for BRAF L597 melanoma, especially in patients with high tumor mutational burden.
- Optimal treatment strategies for BRAF L597 melanoma require further research.
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