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ACTB: ZMIZ2-rearranged adnexal carcinoma: a second case

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...

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Main Authors: Dehner, Carina (Author) , Pissaloux, Daniel (Author) , Thamphya, Brice (Author) , Tirode, Franck (Author) , Deimling, Andreas von (Author) , Guo, Ruifeng R. (Author) , Wieland, Carilyn (Author) , de la Fouchardière, Arnaud (Author) , Kervarrec, Thibault (Author)
Format: Article (Journal)
Language:English
Published: 23 January 2025
In: Virchows Archiv
Year: 2025, Volume: 486, Issue: 4, Pages: 871-875
ISSN:1432-2307
DOI:10.1007/s00428-025-04030-8
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1007/s00428-025-04030-8
Verlag, kostenfrei, Volltext: https://link.springer.com/article/10.1007/s00428-025-04030-8
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Author Notes:Carina Dehner, Daniel Pissaloux, Brice Thamphya, Franck Tirode, Andreas Von Deimling, Ruifeng R. Guo, Carilyn Wieland, Arnaud de la Fouchardière, Thibault Kervarrec
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Summary: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.
Item Description:Gesehen am 28.07.2025
Physical Description:Online Resource
ISSN:1432-2307
DOI:10.1007/s00428-025-04030-8

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