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Review
. 2025 Jun 1;47(6):453-461.
doi: 10.1097/DAD.0000000000002933. Epub 2025 Feb 6.

Gene Fusion-Driven Cutaneous Adnexal Neoplasms: An Updated Review Emphasizing Molecular Characteristics

Gerardo Cazzato  1 , Maged Daruish  1 , Francesco Fortarezza  2 , Anna Colagrande  1 , Andrea Marzullo  1 , Giuseppe Ingravallo  1 , Angelo Paolo Dei Tos  2 , Richard K Yang  3 , Woo Cheal Cho  3
Affiliations
Review

Gene Fusion-Driven Cutaneous Adnexal Neoplasms: An Updated Review Emphasizing Molecular Characteristics

Gerardo Cazzato et al. Am J Dermatopathol. .

Abstract

Gene rearrangements or fusions have emerged as critical oncogenic drivers in various cutaneous adnexal neoplasms. This review offers a comprehensive overview of both established and recently identified molecular alterations, with a specific focus on gene fusions. Key alterations discussed include YAP1 rearrangements, CRTC1::MAML2 fusions, BRD3 rearrangements, MYB::NFIB fusions, ETV6::NTRK3 fusions, and PLAG1 rearrangements, alongside rarer fusion transcripts, such as MEF2C::SS18 , FOXK1::GRHL1/2 , GPS2::GRHL , and RARA::NPEPPS . The article highlights the significance of these genetic changes in tumor biology and their potential therapeutic implications for locally advanced and metastatic skin adnexal tumors. It also addresses diagnostic challenges and molecular distinctions, providing updated insights into adnexal tumors driven by these gene fusions.

Keywords: BRD3; CRTC1::MAML2; ETV6::NTRK3; MYB::NFIB; PLAG1; YAP1; adnexal neoplasms; gene fusion.

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Conflict of interest statement

The authors declare no conflicts of interest.

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