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<p>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 <i>EZH2</i> A692V missense mutation, treated adjuvantly with the EZH2 inhibitor tazemetostat, who experienced a prolonged relapse-free survival.</p>

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Relapse-free survival in a pediatric patient with recurrent EZH2-mutant melanoma treated with adjuvant tazemetostat

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年2月21日

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  • Erin E. Resch,
  • Stavriani C. Makri,
  • Paola Ghanem,
  • Ezra G. Baraban,
  • Kenneth J. Cohen,
  • Alan R. Cohen,
  • Evan J. Lipson,
  • Christine A. Pratilas

摘要

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.