Metastatic pancreatic cancer with activating BRAF V600E mutations: A case report

Pancreatic cancer (PC) is a highly malignant tumor that is resistant to chemotherapy, radiotherapy and immunotherapy. Combination chemotherapy regimens are the standard first-line regimens for metastatic disease, with a median survival < 12 months. Although recurrent genomic alterations such as the BRAF V600E mutation have been reported in PC, evidence supporting the clinical effectiveness of molecularly guided targeted therapies is limited.

We report a case of a 33-year-old male who was referred to our department with weight loss of 5 kg in 2 months, anorexia and abdominal pain. Imaging showed extensive lesions involving the pancreas, liver, bones, muscles and lymph nodes accompanied by elevated carbohydrate antigen 19-9 (CA19-9) and carcinoembryonic antigen (CEA). Biopsy yielded a diagnosis of PC. Treatment with gemcitabine and nab-paclitaxel was initiated, but the disease progressed in < 2 months even though the patient's general condition improved. Molecular testing revealed the presence of BRAF mutation. Dabrafenib/trametinib combination therapy was introduced, and the patient was treated for 2 months with a decrease in CA19-9 and CEA levels, but he died after 2 months of treatment.

BRAF alterations are infrequent in PC. This case highlights the significance of molecular profiling in patients with PC, especially in patients with a high tumor burden.