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Ref Type Journal Article
PMID (39391046)
Authors Maly M, Vanwalleghem L, Van Den Eeckhaut A, De Wilde V
Title Cancer of unknown primary and BRAF V600E meeting the BEACON combination: A case report.
URL
Abstract Text The diagnostic work-up of cancer of unknown primary (CUP) is a challenging task; in addition, only a little data on BRAF targeting in CUP are currently available. Traditionally, the identification of favourable and unfavourable CUP subsets directs the choice of treatment. The present article reports the case of a 50-year-old male patient presenting with a BRAF-mutated CUP, a rare and generally unfavourable subset. Based on imaging, immunohistochemistry and a high value of carbohydrate antigen 19-9, an upper gastrointestinal profile was initially presumed. After disease progression on treatment with a first-line platinum-based doublet chemotherapy, a significant response was documented after treatment with the BEACON combination. The present case report highlighted the paradigm shift in diagnosis and treatment of CUP from a histology-based approach to molecular profiling with the introduction of precision medicine.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF V600E Cancer of Unknown Primary predicted - sensitive Binimetinib + Cetuximab Case Reports/Case Series Actionable In a clinical case study, treatment with the combination of Mektovi (binimetinib) and Erbitux (cetuximab) resulted in a significant but brief response in all lesions in a patient with metastatic cancer of unknown primary harboring BRAF V600E (PMID: 39391046). 39391046