Association of mutation in BRAF gene (V600E) with the clinical progression of disease in patients with metastatic skin melanoma

Abstract

Malignant melanoma is the most aggressive form of skin neoplasm characterized by very rapid clinical progression and high mortality. Current studies indicates that progression, treatment response and prognosis of metastatic melanoma depends on the molecular-genetic abnormalities and their specific combinations in malignant melanocytes. In malignant melanoma, somatic mutations in BRAF gene are most frequent at nucleotide position 1799, where most common transition substitution T>A results in valine being substituted with glutamine (p.Val600Glu or abbreviated as V600E) at amino acid position 600 of the B-Raf protein product. BRAF V600E mutation has been found frequently in patients with metastatic melanoma of the skin.The main goal of this study is to determine the correlation of BRAF V600E mutation presence with the survival of patients with metastatic melanoma of the skin.In the preliminary phase of this observational prospective study, the presence of BRAF V600E mutation was determined in 16 patients with histopathologically confirmed metastatic melanoma of the skin.The results of the analyses performed thus far indicates the presence of correlation of BRAF V600E mutation with the clinical progression of the disease, particularly with the survival during the 12-months evaluation period in patients with metastatic melanoma of the skin.