Shared and distinct molecular pathways in eutopic endometrium of endometriosis and adenomyosis patients: a transcriptomic study in Chinese women.

Background: Endometriosis (EMs) and adenomyosis (AD) are prevalent gynecological disorders with overlapping symptoms but potentially distinct pathophysiology. This study was to understand different gene expression patterns of eutopic endometrium between EMs and AD in Chinese populations.

Methods: This study investigated transcriptomic profiles of eutopic endometrium in Chinese women with EMs (n = 25), AD (n = 22), and controls (n = 18) to identify shared and disease-specific gene expression patterns.

Results: RNA sequencing and bioinformatic analyses revealed 370 differentially expressed genes (DEGs) between EMs and controls, as well as 309 DEGs between AD and controls. Both conditions showed significant downregulation of immune-related pathways compared to controls, though with disease-specific immune signatures. We identified 115 shared DEGs between EMs and AD, primarily involved in inflammatory processes, while disease-specific DEGs highlighted unique pathophysiological mechanisms: antibacterial responses in EMs and neutrophil activation in AD. Direct comparison between EMs and AD revealed 46 DEGs, with EMs-upregulated genes enriched in mucosal immunity. In addition, EMs-enriched pathways included oxidative phosphorylation, ribosome biogenesis, and arachidonic acid metabolism, while AD-enriched pathways involved Wnt signaling and epithelial proliferation.

Conclusions: This study identified shared inflammatory processes of eutopic endometrium for EMs and AD in a Chinese population. EMs-enriched and AD-enriched pathways also inform distinct diagnostic and therapeutic strategies between EMs and AD.