Abstract

We present this case report of a patient with NRAS Q61R-mutant melanoma, suspected to be mucosal melanoma of small bowel origin with cardiac, hepatic and pulmonary metastases. We focus on the unique manner of diagnosis (requiring the finding of a specific molecular signature via liquid biopsy in conjunction with tissue biopsy) and management of this rare cancer with first-line immunotherapy with dual checkpoint blockade followed by maintenance PD-1 inhibition, allowing the patient to have sustained clinical response at eight months since original diagnosis.

Keywords

mucosal melanoma, NRAS Q61R-mutant melanoma, liquid biopsy, immunotherapy, extra-cutaneous melanocytes, extra-cutaneous melanocytes mucosal melanoma