BRAF mutation: Current and future clinical
Jessica Yan-Seen Ng1, Cu Tai Lu1 and Alfred King-yin Lam2
1Department of Surgery, Gold Coast Hospital and 2Cancer Molecular Pathology,
School of Medicine, Griffith University, Gold Coast, Queensland, Australia
Offprint requests to: Prof. Alfred Lam, Head of Pathology, Griffith Medical School, Gold Coast Campus, Gold Coast QLD 4222, Australia. e-mail: a.lam@griffith.edu.au
Summary. The aims are to review the relevance of the BRAF mutations in the clinical settings of colorectal carcinoma. All the literature concerning BRAF mutations and colorectal carcinoma published in PubMed from 2010 to 2018 was reviewed. Multiple variants of BRAF mutations exist in colorectal cancer, the most common type being V600E. The mutation is found in 5 to 15% of colorectal carcinomas and is less common in Asian populations. BRAF mutations are linked with older age, female gender, cigarette smoking and are more common in the right (proximal) portion of the large intestine. BRAF mutations are associated with carcinomas of high histological grade and advanced cancer stages. Often BRAF mutated carcinomas demonstrate adverse histological features such as lymphovascular invasion, perineural invasion, tumour budding and lymph node metastases. BRAF mutations are found in serrated polyposis syndrome and have a negative correlation with hereditary nonpolyposis colorectal cancer (HNPCC). An array of methods of detection of BRAF mutation in colorectal carcinoma are available, such as immunohistochemistry and next generation sequencing, etc. Combinatorial approaches involving anti-BRAF therapies targeting both MAPK signalling as well as the PI3K/mTOR pathway could be a new approach for treatment of metastatic colorectal carcinoma. To conclude, BRAF mutation is important in the pathogenesis of colorectal cancer. Further research on the detection method as well as its role in target therapy will help to improve the management of patients with colorectal cancer. Histol Histopathol 34, 469-477 (2019)
Key words: BRAF, Colorectal carcinoma, Pathology, Genetic
DOI: 10.14670/HH-18-079