Whole-exome sequencing identifies distinct genomic aberrations in eccrine porocarcinomas and poromas.

ABSTRACT:

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

SUBMITTER: Puttonen M 

PROVIDER: S-EPMC11823087 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature