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

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.

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Publication Details

Journal
British Journal of Dermatology
Published
2025-06-27
DOI
https://doi.org/10.1093/bjd/ljaf257
Citations
1
Primary Topic
Cancer and Skin Lesions
Type
article
Field-Weighted Citation Impact
2.00
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article

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

Thomas Brenn, Saamin Cheema, Mark J. Arends, Kim Ping Wong et al.
1 citations
British Journal of Dermatology
Cancer and Skin Lesions
2.00
article

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

Thomas Brenn, Saamin Cheema, Mark J. Arends, Kim Ping Wong, Ian Vermes, Martin Del Castillo Velasco‐Herrera, Louise van der Weyden, Steven D. Billings, Carlos Couceiro Monteagudo, Derek Frew, Michiel P J van der Horst, Ingrid Ferreira, Laura Allen, Nicolas de Saint Aubain, Carolin Mogler, Ahmed Al‐Omari, David J. Adams, Elizabeth Anderson, Jamie Billington
article en
1 citations

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.

British Journal of DermatologyVol. 193(5)
Cleveland Clinic (US), Université Libre de Bruxelles (BE), Universitat de València (ES), University of Michigan (US), Western General Hospital (GB), Institut Jules Bordet (BE), Wellcome Sanger Institute (GB), Edinburgh Cancer Research (GB), Maasstad Ziekenhuis (NL), Biomedical Research Institute (US), INCLIVA Health Research Institute (ES), Indiana University School of Medicine, Indiana University – Purdue University Indianapolis (US), Technical University of Munich (DE)
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Openalex Percentile: Top 14%
Cancer and Skin Lesions
2.00
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