Endometriosis is a common gynecological disorder defined as the presence of endometrial-like tissue (glands and stroma) outside the uterus. The etiopathogenesis of endometriosis is still poorly recognized. It is speculated that stage-specific embryonic antigen 1 (SSEA-1)-positive stem-like glandular epithelial cells may contribute to the development of the disease. The synthesis of SSEA-1 is mediated by fucosyltransferase 4 encoded by the FUT4 gene. Therefore, this study aimed to evaluate the specific expression of FUT4 mRNA in biopsies of the endometrium from women with and without endometriosis. FUT4 mRNA levels were examined in 49 women with laparoscopically confirmed endometriosis and 28 controls by means of quantitative reverse-transcription polymerase chain reaction (qRT-PCR). The expression of FUT4 mRNA was significantly increased in the endometrium of patients with endometriosis when compared to the controls (p < 0.0001). Expression of FUT4 mRNA in the endometrium was correlated with the severity of endometriosis (rs = 0.5579, p < 0.0001); however, there were no differences in endometrial FUT4 mRNA expression when comparing endometriotic lesions from various locations. The discriminatory ability of FUT4 mRNA expression was evaluated by receiver-operating characteristics (ROC), which showed high statistical significance (AUC = 0.90, p < 0.0001), thus indicating that an increased level of endometrial FUT4 mRNA may serve as a specific marker for endometriosis.
Keywords: disease marker; endometriosis; endometrium; fucosyltransferase 4 (FUT4); progenitor cells.