Identification of novel targetable mutations in metastatic anorectal melanoma by next-generation sequencing

The molecular classification of melanomas, which can have diverse clinical and histopathologic features, is defined by the acquisition of somatic mutations. Mutations such as BRAF V600E result in constitutive activation of critical signaling pathways that promote formation of melanocytic nevi.1 Acquisition of subsequent mutations induces the progression to melanomagenesis, and further accumulation of tertiary mutations might promote metastasis. These molecular pathways remain largely undiscovered.