ArticleOrphanet journal of rare diseases2025
Whole-exome sequencing identifies distinct genomic aberrations in eccrine porocarcinomas and poromas.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- RNA-Sequencing Reveals Two Subgroups of Eccrine Porocarcinomas and Poromas.Journal of cellular and molecular medicine · 2026Article
- Aggressive multifocal recurrent porocarcinoma of the face: a case report and review of the literature.Journal of surgical case reports · 2026Article
- Epidemiology, treatment patterns, and survival outcomes of porocarcinoma: A population-based analysis.Medicine · 2026Article
- A Case of Mohs Micrographic Surgery for Facial Porocarcinoma in an Adolescent and Literature Review.Case reports in oncological medicine · 2026Article
- Clinicopathological comparison of eccrine poroma and porocarcinoma: Ki-67 index is not a decisive factor.PloS one · 2025Article
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Authors and funding
5 authors.
Funding
Abstract
backgroundEccrine porocarcinoma (EPC) is a rare malignant skin tumor arising from the eccrine gland. Investigations into the genomic landscape of EPC have uncovered potential drivers of its development and progression. However, there is limited information on the discrepancies between EPC and its benign counterpart, eccrine poroma (EP).
methodsFormalin-fixed paraffin-embedded (FFPE) samples from 15 EPCs and 5 EPs were retrieved from Helsinki Biobank and Finnish Clinical Biobank Tampere. One EPC was found to be digital papillary adenocarcinoma in review of diagnoses. Whole-exome sequencing was used to conduct a comprehensive analysis to elucidate the genomic features of EPCs and EPs.
resultsThere was general heterogeneity within EPCs and EPs, with discrepancies such as exclusive TP53, NCOR1, and CDKN2A mutations in EPCs and a higher mutational load in EPCs than in EPs. Furthermore, we identified alterations in pathways associated with cell adhesion and the extracellular matrix in EPCs, while pathways associated with ketone body and amino acid metabolism were altered in EPs. The MAPK and Ras signaling pathways were enriched in genes mutated only in EPCs.
conclusionsEPCs and EPs are generally heterogeneous tumor entities with a few distinct discrepancies from each other. The findings from this study emphasize the need to further verify the roles of disrupted genes and pathways in the initiation and progression of EPCs and EPs.
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