Relapse-free survival in a pediatric patient with recurrent EZH2-mutant melanoma treated with adjuvant tazemetostat
Enhancer of zeste homolog 2 (EZH2) is an essential epigenetic regulator of H3K27 histone methylation and is mutated or overexpressed in a wide variety of cancers. In melanoma, EZH2 overexpression contributes to excessive trimethylation of H3K27 on tumor suppressor genes and has been proposed to be a mechanism of tumor progression and metastasis. EZH2-targeted therapies have been successfully used to treat patients with follicular lymphoma and epithelioid sarcoma, but their clinical use in melanoma has not been described. Here, we describe a pediatric patient with multiply relapsed melanoma harboring an EZH2 A692V missense mutation, treated adjuvantly with the EZH2 inhibitor tazemetostat, who experienced a prolonged relapse-free survival.
Authors
- Evan J. Lipson (ORCID: https://orcid.org/0000-0003-2976-0911)
- Stavriani C. Makri (ORCID: https://orcid.org/0009-0008-6940-9468)
- Paola Ghanem (ORCID: https://orcid.org/0000-0001-8134-665X)
- Kenneth J. Cohen (ORCID: https://orcid.org/0000-0001-9193-9344)
- Christine A. Pratilas (ORCID: https://orcid.org/0000-0002-7116-0605)
- Ezra Baraban (ORCID: https://orcid.org/0000-0001-6932-8985)
- Erin E. Resch (ORCID: https://orcid.org/0000-0002-2617-6376)
- Alan R. Cohen (ORCID: https://orcid.org/0000-0002-9506-6541)
Institutions
- Bloomberg (United States) (US)
- Johns Hopkins University (US)
- Johns Hopkins Medicine (US)
- Sidney Kimmel Comprehensive Cancer Center (US)
Publication Details
- Journal
- npj Precision Oncology
- Published
- 2025-02-21
- DOI
- https://doi.org/10.1038/s41698-025-00826-8
- Citations
- 3
- Primary Topic
- Epigenetics and DNA Methylation
- Type
- article
- Field-Weighted Citation Impact
- 2.42
Funders
- Bloomberg~Kimmel Institute for Cancer Immunotherapy, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University