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<p>A case of cutaneous adnexal neoplasm with unusual squamoid morphology and harboring an in frame <i>ACTB::ZMIZ2</i> fusion transcript was recently described. Herein, we report a second case of adnexal carcinoma harboring similar morphology and an identical in frame <i>ACTB::ZMIZ2</i> fusion transcript. This 2.2-cm mass was removed from the axilla of a 17-year-old woman. Microscopic examination revealed a large nodular and infiltrative tumor invading the dermis composed of sheets and nests frequently centered by large areas of keratinization. Molecular investigation revealed an in frame <i>ACTB::ZMIZ2</i> fusion transcript. Clustering analysis revealed close proximity of this case with the <i>ACTB::ZMIZ2</i>-fused adnexal tumor previously reported. Herein, we report a second case of adnexal tumor with <i>ACTB::ZMIZ2</i> fusion arising in a young adult suggesting that <i>ACTB::ZMIZ2</i> fusion might be a defining genetic event, specific of a rare and previously undescribed adnexal tumor entity.</p>

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ACTB::ZMIZ2-rearranged adnexal carcinoma: a second case

  • 期刊论文

  • 发表日期：

    2025年1月23日

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  • Carina Dehner,
  • Daniel Pissaloux,
  • Brice Thamphya,
  • Franck Tirode,
  • Andreas Von Deimling,
  • Ruifeng R. Guo,
  • Carilyn Wieland,
  • Arnaud de la Fouchardière,
  • Thibault Kervarrec

摘要

A case of cutaneous adnexal neoplasm with unusual squamoid morphology and harboring an in frame ACTB::ZMIZ2 fusion transcript was recently described. Herein, we report a second case of adnexal carcinoma harboring similar morphology and an identical in frame ACTB::ZMIZ2 fusion transcript. This 2.2-cm mass was removed from the axilla of a 17-year-old woman. Microscopic examination revealed a large nodular and infiltrative tumor invading the dermis composed of sheets and nests frequently centered by large areas of keratinization. Molecular investigation revealed an in frame ACTB::ZMIZ2 fusion transcript. Clustering analysis revealed close proximity of this case with the ACTB::ZMIZ2-fused adnexal tumor previously reported. Herein, we report a second case of adnexal tumor with ACTB::ZMIZ2 fusion arising in a young adult suggesting that ACTB::ZMIZ2 fusion might be a defining genetic event, specific of a rare and previously undescribed adnexal tumor entity.