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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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Hauptverfasser: Dehner, Carina (VerfasserIn) , Pissaloux, Daniel (VerfasserIn) , Thamphya, Brice (VerfasserIn) , Tirode, Franck (VerfasserIn) , Deimling, Andreas von (VerfasserIn) , Guo, Ruifeng R. (VerfasserIn) , Wieland, Carilyn (VerfasserIn) , de la Fouchardière, Arnaud (VerfasserIn) , Kervarrec, Thibault (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 23 January 2025
In: Virchows Archiv
Year: 2025, Jahrgang: 486, Heft: 4, Pages: 871-875
ISSN:1432-2307
DOI:10.1007/s00428-025-04030-8
Online-Zugang: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
Volltext
Verfasserangaben:Carina Dehner, Daniel Pissaloux, Brice Thamphya, Franck Tirode, Andreas Von Deimling, Ruifeng R. Guo, Carilyn Wieland, Arnaud de la Fouchardière, Thibault Kervarrec
Beschreibung
Zusammenfassung: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.
Beschreibung:Gesehen am 28.07.2025
Beschreibung:Online Resource
ISSN:1432-2307
DOI:10.1007/s00428-025-04030-8

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