BRAF Mutated Metastatic Colorectal Carcinoma (mCRC): A case report

Abstract

Colorectal cancer (CRC) is the third and second most frequent cancer in men and women respectively. Although histologically similar, CRCs are diverse with respect to the underlying molecular mechanism which could be explored for planning treatment strategies. Chromosomal instability, microsatellite instability, and errors in the DNA repair mechanism are the most frequent molecular aberrations involved in various sub groups of CRCs.

BRAF (v-Raf murine sarcoma viral oncogene homolog B) mutation is seen in 5-15 % of CRC, with a higher mutation rate in right sided colon cancer. Patients with BRAF V 600E mutation tends to have a poor prognosis with a median survival rate of less than 12 months. In terms of treatment these patients do not benefit from therapeutics targeting the EGFR so it is important for clinicians to be aware. Treatment options beyond standard chemotherapy are crucial to achieve better outcomes and the role of anti-EGFR therapy alone remains controversial. Current trials assessing combinations of molecular targeted agents have shown some promise.

We report a case of a 32 year old female who presented with features of intestinal obstruction and pallor of skin and mucous membranes. Her blood test showed low Hb and a high serum CEA value and CT Abdomen revealed a large hepatic flexure growth with multiple liver metastasis. Colonoscopic biopsy showed moderately differentiated adenocarcinoma and molecular assay confirmed wild type K RAS and mutated BRAF. To the best of our knowledge there are no reported cases of BRAF mutated metastatic carcinoma colon from Nepal.