Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations

Inherited mutation in the tumor suppressor gene CDKN2A is one of the strongest known risk factors for melanoma of the skin. Moreover, carriers have been found to have poor melanoma-specific survival. In this study, responses to novel immunotherapy agents (PD-1 and CTLA-4 inhibitors) in CDKN2A mutation carriers with metastatic melanoma were evaluated. Eleven of nineteen affected carriers (58%) responded to the immunotherapy, six with complete responses (32%) which are significantly higher frequencies than observed in clinical trials (37% and 7%, respectively). Further, we report that melanoma tumors with CDKN2A mutations have significantly higher burden of mutations.CDKN2A mutated melanoma patients may have improved immunotherapy responses due to increased tumor mutational load, resulting in a stronger antitumoral immune responses. (By Dr. Hildur Helgadottir, https://jmg.bmj.com/content/early/2018/10/05/jmedgenet-2018-105610.1 )


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