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

  1. Saamin Cheema
  2. Louise van der Weyden
  3. Kim Wong
  4. Martin Del Castillo Velasco-Herrera
  5. Jamie Billington
  6. Ian Vermes
  7. Elizabeth Anderson
  8. Laura Allen
  9. Nicolas de Saint Aubain
  10. Michiel P J van der Horst
  11. Ahmed K Alomari
  12. Carolin Mogler
  13. Carlos Monteagudo
  14. Derek Frew
  15. Steven D Billings
  16. Mark J Arends
  17. Ingrid Ferreira
  18. Thomas Brenn
  19. David J Adams
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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.

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  1. Version published to 10.1093/bjd/ljaf257
  2. Version published to 10.1101/2025.03.31.25324887 on medRxiv