The Association Between Braf V600E Mutation and Circulating Melanoma Cells in Stage I-IV Melanoma Patients

Jessica Bauldry, The University of Texas School of Public Health


Introduction. Melanoma is the deadliest type of skin cancer, and its incidence is projected to increase at a rate of 1.4% per year. Circulating melanoma cells (CMCs) are cells shed from the primary tumor into the bloodstream, and are believed to seed distant tumors. The BRAF V600E mutation is a significant genetic variant in melanoma, and is associated with greater risk of melanoma. Both CMCs and the BRAF V600E mutation are associated with poor outcomes in melanoma patients. Although CMCs are prognostically significant, the precise mechanism of their release is not well understood. Therefore, we hypothesize that BRAF V600E is associated with greater likelihood of CMC release. Aims and Methods. The purpose of this research was to determine whether the presence of the BRAF V600E mutation is associated with higher odds of CMCs among a cohort of 280 melanoma patients treated at M.D. Anderson Cancer Center between 2012 and 2016. The association between BRAF V600E mutation and CMCs was tested using simple and multiple logistic regression models which included potential confounding variables known to be relevant to disease prognosis. Results. The analysis indicates that BRAF V600E is not positively associated with presence of CMCs in melanoma patients. In fact, individuals with the BRAF V600E variant were slightly less likely to have CMCs than individuals without the variant, although the association was not statistically significant. Additionally, tumor size is positively associated with greater odds of CMCs. Conclusions. The results of this study indicate that the BRAF V600E mutation may be protective against the release of CMCs, and therefore, metastasis. It also suggests that tumor size may be important in CMC release. Future studies should examine prevalence of CMCs in BRAF+ individuals, comparing individuals who received targeted therapy versus those who did not, as well as research into the basic science of CMC dissemination.

Subject Area


Recommended Citation

Bauldry, Jessica, "The Association Between Braf V600E Mutation and Circulating Melanoma Cells in Stage I-IV Melanoma Patients" (2017). Texas Medical Center Dissertations (via ProQuest). AAI10275899.