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Abstract
Introduction/Background According to a meta-analysis adenomyosis prevalence among patients with endometrial cancer is 22.6%. Our aim is to investigate whether there is a connection between adenomyosis and the development of endometrial carcinoma.
Methodology In cooperation with Pathology the connection between adenomyosis and endometrial carcinomas was investigated using existing hysterectomy specimens. The specimens were divided into eight groups depending on their tissue type (adenomyosis, tumour, normal endometrium). The relevant tissue was marked on the formalin-fixed paraffin-embedded sections. The samples were sent to HTG Molecular Diagnostics, where the RNA was analysed. The expression of genes in adenomyosis case and adenomyosis and tumour case were compared. After comparing all genes with the control group (baseline), further significantly deregulated genes were identified that occur in adenomyosis but not in healthy tissue. Damaged or specimens from patients who previously received chemo- or radiotherapy were excluded. Only endometroid endometrial cancers were used.
Results 159 significantly differential expressed genes (DEGs) were found in adenomyosis of tumour case compared to adenomyosis only (adjusted p-value <0.05 and log2 fold change >2 or <-2). Gene set enrichment analysis of the 159 genes was performed to assess the cellular function. The most significant biological processes and cellular compartments were categorised into three groups: cell death, cell signaling, synapses. After comparing the genes against the baseline, 477 genes were found to be deregulated in the same direction in adenomyosis only and adenomyosis of tumour case. Six of these genes were identified as potential oncogenes (RAB12, RAB38, RAP2C, BOC, RAF1, RAP1A).
Conclusion These are target genes whose deregulation could cause malignant degeneration in adenomyosis and represent a resource for further studies. The DEGs analysis shows a potential difference between normal adenomyosis and adenomyosis next to tumour. Further studies are required to validate that concept. In the next phase, immunohistochemistry will be used to validate our data.
Disclosures None.
