Personalised approach in combined treatment of cholangiocarcinoma: a case report of healing from cholangiocellular carcinoma at stage IV

摘要

We describe a rare case of healing from low differentiated cholangiocarcinoma stage T4N1M0 with atypical genetic mutation in gene BRAF V600E for this tumor. A 38-year-old female patient was operated in National Surgery Institute due to cholangiocellular carcinoma (CCA) of left liver lobe with anterior abdominal wall invasion, invasion into diaphragm, pericardium. Left liver resection with lymphatic dissection, pericardial resection was performed. Adjuvant chemotherapy (GEMOX) didn’t give any results. Treatment with pembrolizumab also didn’t result in any improvement. Next generation sequencing molecular tumor profiling revealed mutation in BRAF V600E gene. Target therapy with dabrafenib and trametinib, a BRAF gene inhibitors was initiated and resulted in a full response. The patient is for 2 years tumor free with no signs of recurrence. To our knowledge our case report is longest in the world for stage IV CCA treated with dabrafenib + trametinib.