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|Authors||Zhang S, Yang Z, Cheng Y, Guo X, Liu C, Wang S, Zhang L|
|Title||BRAF L485-P490 deletion mutant metastatic melanoma sensitive to BRAF and MEK inhibition: A case report and literature review.|
|Abstract Text||Background: The combination therapy of BRAF inhibitors (BRAFis) and MEK inhibitors (MEKis) has been approved as a first-line treatment for metastatic melanoma with BRAF V600 mutants. Recently, BRAF mutations have been divided into three subtypes based on biochemical and signaling characteristics. Unlike V600 mutants that show class I BRAF mutations, evidence of the effects of using BRAF inhibitors and MEK inhibitors in patients with non-V600 BRAF mutations remains unclear. The exploration of effective therapy for non-V600 BRAF mutations in melanoma has thus attracted much interest. Case presentation: We reported a case of a 64-year-old female metastatic melanoma patient with a novel BRAF p.L485-P490 deletion mutation. The patient received anti-PD1 agent pembrolizumab (100 mg) therapy as the first-line treatment for two cycles, which was terminated due to an intolerable adverse effect. Considering the p.L485-P490 deletion mutation signal as an active dimer which is akin to a class II BRAF mutation, the patient underwent dabrafenib and trametinib combination therapy as a second-line treatment. After two cycles of combination treatment, the patient achieved a partial response confirmed by radiological examinations. At the last follow-up date, the patient had obtained over 18 months of progression-free survival, and the treatment was well tolerated. Conclusion: The combination therapy of dabrafenib and trametinib has been proven to be an effective method as a later-line therapy for metastatic melanoma patients with class II BRAF in-frame deletion mutations.|
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|BRAF L485_P490del||melanoma||predicted - sensitive||Dabrafenib + Trametinib||Case Reports/Case Series||Actionable||In a clinical case study, a patient with lymph node metastatic melanoma harboring BRAF L485_P490del and high CD274 (PD-L1) expression (TPS>=60%) experienced a partial response with regression of the target lesion after two cycles of second-line combination therapy with Tafinlar (dabrafenib) and Mekinist (trametinib), and at last follow up, demonstrated a sustained partial response and progression-free survival of at least 18 months (PMID: 36686670).||36686670|