Distinct clinical and pathological features are associated with the BRAFT1799A(V600E) mutation in primary melanoma

The BRA(T1799A) mutation encodes BRAF(V600E) that leads to activation of the mitogen-activated protein kinase pathway. This study aimed to assess the clinico-pathological features of primary invasive melanomas containing the BRAF(T1799A) mutation. Patients (n=251) with invasive primary melanomas from Australia were interviewed and examined with respect to their melanoma characteristics and risk factors. Independent review of pathology, allele-specific PCR for the BRAF(T1799A) mutation, immunohistochemical staining with Ki67, and phospho-histone-H3 (PH3) were performed. The BRA fall 799A mutation was found in 112 (45 ) of the primary melanomas. Associations with the BRAF(T1799A) mutation (P <0.05) were as follows: low tumor thickness (odds ratio (OR) =33); low mitotic rate (OR= 2.0); low Ki67 score (OR= 5.0); low PH3 score (OR= 3.3); superficial spreading melanoma (OR-10.0); pigmented melanoma (OR=3.7); a lack of history of solar keratoses (OR=2.7); a location on the trunk (OR 3.4) or extremity (OR=2.0); a high level of self-reported childhood sun exposure (OR=2.0);