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

NGS: next-generation sequencing STAMP: Stanford targeted next-generation sequencing panel INTRODUCTION 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. Acquisition of subsequent mutations induces the progression to melanomagenesis, and further accumulation of tertiary mutations might promote metastasis. These molecular pathways remain largely undiscovered. Here we describe the use of the Stanford solid tumor actionable mutation panel (STAMP), a targeted next-generation sequencing (NGS) panel comprising 130 genes selected on the basis of their known impact as actionable targets of existing and emerging anti-cancer therapies, prognostic features, and mutation recurrence frequency across patients with known cancer types, including melanoma.