A Rare BRAF V600E mutation detected by Next Generation Sequencing in a superficial spreading melanoma: case report and potential diagnostic implications

Increased biological and therapeutic understanding in melanoma is drastically changing the mortality rate in advanced stages. According to the COSMIC database (Catalogue Of Somatic Mutations In Cancer, Apr 2019 [1]) 41% of the melanomas harbor BRAF oncogene mutations and approximately 97% of BRAF mutations are situated in codon 600. The most common mutation (80-90%) is represented by a substitution of valine to glutamic acid (V600E), followed by valine to lysine (V600K; 5-12%) [1].