Elevated ESR2 and BRCA1 gene expression in adenomyosis associated with endometrial cancer: a pilot study.

چکیده اصلی

BACKGROUND: Adenomyosis is a benign uterine disease that has been associated with endometrial proliferative disorders. Adenomyosis and endometrial cancer (EC) are sex-steroid-dependent conditions that may coexist, but their estrogen receptor (ER) and progesterone receptor (PR) signaling landscape is poorly defined. OBJECTIVE: The present multicenter study aimed to characterize the expression of estrogen (ESR1/ESR2 plus the coregulators NCOA1, CCND1, BRCA1) and progesterone (PGR plus FOXO1, and CYP26A1) receptor pathway-related genes in hysterectomy specimens of patients with adenomyosis and coexisting EC. METHODS: Specimens from three groups of patients (n = 10 per group) referred to two tertiary hospitals were studied: adenomyosis plus EC (Group 1), only adenomyosis (Group 2), and only EC (Group 3). Gene expression was assessed by droplet digital PCR using a compartment-matched design. Analysis was compartment-specific, and no cross-compartment comparisons were performed. RESULTS: Compared with isolated adenomyosis, adenomyotic lesions from uteri with coexisting EC showed higher ESR2 (p = 0.0082) and BRCA1 (p = 0.0007) expression, with no differences in ESR1, NCOA1, or CCND1. PR-related gene expression (PGR, FOXO1, and CYP26A1) did not differ between adenomyosis groups. CONCLUSION: Although preliminary, the present findings indicate that adenomyosis coexisting with EC is characterized by elevated expression of ESR2 and BRCA1, suggesting an enriched ER-related microenvironment that may be relevant to local estrogen responsiveness.

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