Clinicopathological features and BRAFV600E mutation analysis in colorectal cancer

Objectives To assess the clinicopathological parameters in colorectal cancer. To determine the proportion of BRAF V600E mutations among colorectal cancer (CRC) patients. Material and Methods The cross-sectional study was conducted in 85 consecutive samples of histologically confirmed colon/rectal adenocarcinoma cases from a Tertiary Care Hospital, Thrissur, for eighteen months. Informed consent was obtained from patients whose specimens were collected, and the tests were performed after approval from the Institutional Ethics Committee. All the gross findings were recorded, including the size of the specimen, the tumor site, and the gross appearance. Histological sections were studied under a light microscope. Further deoxyribonucleic acid (DNA) isolation and amplification refractory mutation system- polymerase chain reaction (ARMS PCR) were carried out to confirm the BRAF mutation status. Data were entered into MS Excel and analyzed using IBM-SPSS software version 25. Results 55.3% (47 cases) of CRC were above 65 years, 63.5% (54 cases) were males and 36.5% were females (M: F 3:1). Majority of tumors were located in the sigmoid colon (31.8%) followed by rectum (16.5%), ascending colon (14.1%), hepatic flexure (10.6%), caecum (7.1%), transverse colon (5.9%), descending colon (4.7%), and splenic flexure (1.2%). 91.8% of cases were low grade, and 8.2% were high grade. 50.6% of tumors were pT3, and the least were T4 (2.4%). Out of 85 study participants, BRAF was positive in 2(2.4%) patients and negative in 83(97.6%) patients, respectively. Conclusion This is the first such South Indian study. The small sample size, demographic disparities in the study population, and pre-analytical factors could explain the low positivity number. In the future, routine molecular testing for various biomarkers including BRAF may become inevitable in targeted therapy of CRC for practicing precision medicine.