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2020

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cc by-nc (c) Helgadottir et al., 2020
Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/173023

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

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https://doi.org/10.1136/jmedgenet-2018-105610

Abstract

Background: Inherited CDKN2A mutation is a strong risk factor for cutaneous melanoma. Moreover, carriers have been found to have poor melanoma-specific survival. In this study, responses to novel immunotherapy agents in CDKN2A mutation carriers with metastatic melanoma were evaluated. Methods: CDKN2A mutation carriers that have developed metastatic melanoma and undergone immunotherapy treatments were identified among carriers enrolled in follow-up studies for familial melanoma. The carriers' responses were compared with responses reported in phase III clinical trials for CTLA-4 and PD-1 inhibitors. From publicly available data sets, melanomas with somatic CDKN2A mutation were analysed for association with tumour mutational load. Results: Eleven of 19 carriers (58%) responded to the therapy, a significantly higher frequency than observed in clinical trials (p=0.03, binomial test against an expected rate of 37%). Further, 6 of the 19 carriers (32%) had complete response, a significantly higher frequency than observed in clinical trials (p=0.01, binomial test against an expected rate of 7%). In 118 melanomas with somatic CDKN2A mutations, significantly higher total numbers of mutations were observed compared with 761 melanomas without CDKN2A mutation (Wilcoxon test, p<0.001). Conclusion: Patients with CDKN2A mutated melanoma may have improved immunotherapy responses due to increased tumour mutational load, resulting in more neoantigens and stronger antitumorous immune responses.

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Melanoma, Metàstasi, Immunoteràpia

Subject (English)

Melanoma, Metastasis, Immunotheraphy

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Articles publicats en revistes (Medicina)

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HELGADOTTIR, Hildur, et al. Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations. Journal of Medical Genetics. 2020. Vol. 57, num. 5, pags. 316-321. ISSN 0022-2593. [consulted: 11 of August of 2026]. Available at: https://hdl.handle.net/2445/173023

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