Comprehensive profiling of the mutational landscape of hidradenoma papilliferum validates key role of alterations in the phosphoinositide 3-kinase/AKT pathway.

Cheema, Saamin; van der Weyden, Louise; Wong, Kim; Del Castillo Velasco-Herrera, Martin; Billington, Jamie; Vermes, Ian; Anderson, Elizabeth; Allen, Laura et al. · Br J Dermatol · 2025

basic_science · Level V

Where this comes from

Abstract

Comprehensive characterization of the mutational landscape of hidradenoma papilliferum (HP) identified <i>PIK3CA</i> and <i>PIK3R1</i> as mutually exclusive driver genes. Taken together with the mutation of other genes involved in phosphoinositide 3-kinase/AKT signalling, our findings confirm a key role of the alteration of this pathway in the pathogenesis of HP. The absence of a significant presence of human papillomavirus (HPV) sequences suggests that HPV is not involved in the aetiology of HP.