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Updated: May 28, 2025
Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
Whole-exome sequencing identifies distinct genomic aberrations in eccrine porocarcinomas and poromas
Maya Puttonen1, Henrikki Almusa2, Tom Böhling3
1Department of Pathology, University of Helsinki and Helsinki University Hospital, P.O Box 63, 00014, Helsinki, Finland. maya.puttonen@helsinki.fi.
Background:
Eccrine 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).
Methods:
Formalin-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.
Results:
There 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.
Conclusions:
EPCs 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.
