Exploring the genetic driver events of eccrine poromas and porocarcinomas: a retrospective, cross-institutional study of 54 cases
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.
Authors
- Thomas Brenn (ORCID: https://orcid.org/0000-0002-0089-0352)
- Emily L. Clarke (ORCID: https://orcid.org/0000-0001-7106-9898)
- Saamin Cheema (ORCID: https://orcid.org/0000-0002-5297-2042)
- Mark J. Arends (ORCID: https://orcid.org/0000-0002-6826-8770)
- Kim Ping Wong (ORCID: https://orcid.org/0000-0003-1072-6262)
- Ian Vermes
- Martin Del Castillo Velasco‐Herrera (ORCID: https://orcid.org/0000-0001-5956-0211)
- Louise van der Weyden (ORCID: https://orcid.org/0000-0002-0645-1879)
- Steven D. Billings (ORCID: https://orcid.org/0000-0002-2278-5908)
- Carlos Couceiro Monteagudo (ORCID: https://orcid.org/0000-0002-9381-9976)
- Derek Frew (ORCID: https://orcid.org/0000-0002-0890-1415)
- Michiel P J van der Horst
- Ingrid Ferreira (ORCID: https://orcid.org/0000-0002-4321-5250)
- Jacqueline Marcia Boccacino (ORCID: https://orcid.org/0000-0001-6813-5217)
- Nicolas de Saint Aubain
- Peter M. Ferguson (ORCID: https://orcid.org/0000-0002-8335-0406)
- Neil Rajan (ORCID: https://orcid.org/0000-0002-5850-5680)
- Carolin Mogler (ORCID: https://orcid.org/0000-0003-3400-7254)
- Ahmed Al‐Omari (ORCID: https://orcid.org/0000-0002-3776-5053)
- Kirsty Roberts (ORCID: https://orcid.org/0000-0003-0765-3752)
- David J. Adams (ORCID: https://orcid.org/0000-0001-9490-0306)
- Elizabeth Anderson
- William Merchant
Institutions
- The University of Sydney (AU)
- University of Leeds (GB)
- Cleveland Clinic (US)
- Université Libre de Bruxelles (BE)
- Universitat de València (ES)
- University of Michigan (US)
- Leeds Teaching Hospitals NHS Trust (GB)
- Royal Prince Alfred Hospital (AU)
- Western General Hospital (GB)
- Royal Victoria Infirmary (GB)
- Wellcome Sanger Institute (GB)
- Edinburgh Cancer Research (GB)
- Maasstad Ziekenhuis (NL)
- Melanoma Institute Australia (AU)
- INCLIVA Health Research Institute (ES)
- Indiana University School of Medicine
- Indiana University – Purdue University Indianapolis (US)
- Technical University of Munich (DE)
- Newcastle University (GB)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2024-11-15
- DOI
- https://doi.org/10.1093/bjd/ljae447
- Citations
- 6
- Primary Topic
- Cancer and Skin Lesions
- Type
- article
- Field-Weighted Citation Impact
- 3.21
Funders
- Wellcome Trust
- National Institute for Health and Care Research
- Medical Research Council