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

Titel:: Comprehensive profiling of the mutational landscape of hidradenoma papilliferum validates key role of alterations in the phosphoinositide 3-kinase/AKT pathway.
Dokumenttyp:: Journal Article
Autor(en):: Cheema, Saamin; van der Weyden, Louise; Wong, Kim; Del Castillo Velasco-Herrera, Martin; Billington, Jamie; Vermes, Ian; Anderson, Elizabeth; Allen, Laura; de Saint Aubain, Nicolas; van der Horst, Michiel P J; Alomari, Ahmed K; Mogler, Carolin; Monteagudo, Carlos; Frew, Derek; Billings, Steven D; Arends, Mark J; Ferreira, Ingrid; Brenn, Thomas; Adams, David J
Abstract:: Comprehensive characterization of the mutational landscape of hidradenoma papilliferum (HP) identified PIK3CA and PIK3R1 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.
Zeitschriftentitel:: Br J Dermatol
Jahr:: 2025
Band / Volume:: 193
Heft / Issue:: 5
Seitenangaben Beitrag:: 1004-1007
Volltext / DOI:: doi:10.1093/bjd/ljaf257
PubMed:: http://view.ncbi.nlm.nih.gov/pubmed/40580495
Print-ISSN:: 0007-0963
TUM Einrichtung:: Institut für Allgemeine Pathologie und Pathologische Anatomie (Dr. Mogler komm.)
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