DOI: 10.1097/dad.0000000000002933 ISSN: 0193-1091
Gene Fusion-Driven Cutaneous Adnexal Neoplasms: An Updated Review Emphasizing Molecular Characteristics
Gerardo Cazzato, Maged Daruish, Francesco Fortarezza, Anna Colagrande, Andrea Marzullo, Giuseppe Ingravallo, Angelo Paolo Dei Tos, Richard K. Yang, Woo Cheal Cho 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.