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Metastatic uveal melanoma is a deadly disease with no proven standard of care. Here we present a metastatic uveal melanoma patient with an exceptional high sensitivity to a PD-1 inhibitor associated with outlier CpG>TpG mutation burden,  MBD4  germline deleterious mutation, and somatic  MBD4  inactivation in the tumor. We identify additional tumors in The Cancer Genome Atlas (TCGA) cohorts with similar hypermutator profiles in patients carrying germline deleterious  MBD4  mutations and somatic loss of heterozygosity. This  MBD4 -related hypermutator phenotype may explain unexpected responses to immune checkpoint inhibitors.

Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors