Exploring the genetic driver events of eccrine poromas and porocarcinomas: a retrospective, cross-institutional study of 54 cases

作者：Mark J. Arends, Martin Del Castillo Velasco‐Herrera, Saamin Cheema, Kim Ping Wong, Jacqueline Marcia Boccacino, Ian Vermes, Kirsty Roberts, Elizabeth Anderson, Michiel P J van der Horst, Nicolas de Saint Aubain, Ahmed Al‐Omari, Carlos Monteagudo, Steven D. Billings, Derek Frew, Emily L. Clarke, William Merchant, Neil Rajan, Peter M. Ferguson, Carolin Mogler, Ingrid Ferreira, Thomas Brenn, Louise van der Weyden, David J. Adams · 发表于：British Journal of Dermatology · 年份：2024 · DOI：10.1093/bjd/ljae447 · 被引用次数：8 · 研究领域：Cancer and Skin Lesions、Soft tissue tumor case studies、Advanced Antenna and Metasurface Technologies

We have comprehensively characterized the mutational landscape of eccrine poroma (EP) and eccrine porocarcinoma (EPC), uncovering novel molecular events and delineating different pathways of tumorigenesis underlying these tumours. EPs are driven largely by oncogenic fusion genes, whereas EPCs are driven largely by somatic mutations affecting various pathways, with a subset driven by fusion genes as the first oncogenic driver, and somatic mutations representing secondary events contributing to progression of the tumour. Fusion genes in EP predominantly involve YAP1, while those in EPC preferentially involve PAK gene family members.