Biomarkers of endometriosis

Prospective standardized biobank-based validation studies are needed for noninvasive diagnosis of endometriosis in symptomatic patients with pain and/or subfertility based on promising protein/peptide/micro-RNA (miRNA) biomarkers in peripheral blood and endometrium.

Amelie Fassbender, Ph.D., Alexandra Vodolazkaia, Ph.D., M.D., Philippa Saunders, Ph.D., Dan Lebovic, M.D., Etienne Waelkens, Ph.D., M.D., Bart De Moor, Ph.D., Thomas D’Hooghe, Ph.D., M.D.

Volume 99, Issue 4, Pages 1135-1145, 15 March 2013


A non-invasive test for endometriosis would be useful for the early detection of endometriosis of symptomatic women with pelvic pain and/or subfertility with normal ultrasound. This would include nearly all cases of minimal-mild endometriosis, some cases of moderate-severe endometriosis without a clearly visible ovarian endometrioma and cases with pelvic adhesions and/or other pelvic pathology, who might benefit from surgery to improve pelvic pain and/or subfertility. In this review paper, an overview is presented on the diagnostic performance of non-or semi-invasive tests for endometriosis including panels of known peripheral blood biomarkers, protein/peptide markers discovered by proteomics, miRNA and endometrial nerve fiber density. Tests with high sensitivity and acceptable specificity have been developed, sometimes validated in independent populations and are therefore promising. In order to make real progress, international agreement on biobank development is needed for standard operating procedures for the collection, treatment, storage and analysis of tissue samples and for detailed clinical phenotyping of these samples. Furthermore, it is necessary to validate the diagnostic accuracy of any promising test prospectively in an independent symptomatic patient population with subfertility and/or pain without clear ultrasound evidence of endometriosis and with a clinical indication for surgery, divided into cases with laparoscopically and histologically confirmed endometriosis and controls with laparoscopically confirmed absence of endometriosis.

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