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A novel germline NF1 splicing variant drives the onset of an anorectal mucosal melanoma in a patient with a stable and durable nivolumab response

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Objective: Neurofibromatosis type-1 (NF1) patients rarely develop mucosal melanomas. We report a rare form of anorectal mucosal melanoma (ARMM) in an NF1 syndromic patient profiled for genomics and transcriptomics to assess the d... ...