Biomarkers of endometriosis: How far have we come and where are we going?

In: Slovenian Medical Journal · 2021 · vol. 90(5-6) , pp. 256–265 · doi:10.6016/zdravvestn.3056 · W3167378142
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This report describes hypothesis-driven and hypothesis-generating approaches for endometriosis biomarker discovery, highlighting potential candidates and emphasizing the need for clinician-researcher collaboration to improve patient quality of life.

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This report evaluates progress in endometriosis biomarker discovery by describing both hypothesis-driven and hypothesis-generating approaches, and summarizing candidate biomarkers and their reported diagnostic performance (sensitivity and specificity). It frames the problem as the absence of reliable non-invasive tests compared with the laparoscopic “gold standard” and discusses prior and more recent work from the authors’ perspective, including proteomic and other biomarker strategies. A key caveat emphasized is that future studies should improve patient quality of life rather than focusing only on statistically significant biomarker differences, implying a need for clinically relevant endpoints. This paper is centrally about endometriosis — it reviews and conceptualizes biomarker development for non-invasive diagnosis of endometriosis and highlights research priorities and limitations in this field.

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Abstract

Endometriosis is a common gynaecological disease that is characterized by endometrium-like tissue outside the uterine cavity. Endometriosis significantly compromises the quality of life of women and is a major cause of infertility. The gold standard for diagnosis of endometriosis is visual inspection by laparoscopy, which significantly prolongs the time to final diagnosis. This lack of non-invasive diagnostic approaches is why the discovery of biomarkers for endometriosis has been defined as a research priority. In this report, we describe hypothesis-driven and hypothesis-generating approaches for biomarker discovery, along with some important potential biomarkers of endometriosis and their diagnostic characteristics, sensitivities, and specificities. Finally, we present our perspective on the discovery of biomarkers for endometriosis, and discuss some results from our previous and more recent studies. Future studies must focus on improving patient quality of life rather than on discovering significant differences, and therefore close collaboration between clinicians and pre-clinical researchers is essential.
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Biomarkers of endometriosis: How far have we come and where are we going? DOI: https://doi.org/10.6016/ZdravVestn.3056Keywords: endometriosis, diagnosis, biomarkers, proteomics, hypothesis generatingAbstract Endometriosis is a common gynaecological disease that is characterized by endometrium-like tissue outside the uterine cavity. Endometriosis significantly compromises the quality of life of women and is a major cause of infertility. The gold standard for diagnosis of endometriosis is visual inspection by laparoscopy, which significantly prolongs the time to final diagnosis. This lack of non-invasive diagnostic approaches is why the discovery of biomarkers for endometriosis has been defined as a research priority. In this report, we describe hypothesis-driven and hypothesis-generating approaches for biomarker discovery, along with some important potential biomarkers of endometriosis and their diagnostic characteristics, sensitivities, and specificities. Finally, we present our perspective on the discovery of biomarkers for endometriosis, and discuss some results from our previous and more recent studies. Future studies must focus on improving patient quality of life rather than on discovering significant differences, and therefore close collaboration between clinicians and pre-clinical researchers is essential. Downloads References 1. Rogers PA, D’Hooghe TM, Fazleabas A, Giudice LC, Montgomery GW, Petraglia G, et al. Defining future directions for endometriosis research: workshop report from the 2011 World Congress of Endometriosis In Montpellier, France. Reprod Sci. 2013;20(5):483-9. DOI: 10.1177/1933719113477495 2. Sampson JA. Peritoneal endometriosis due to menstrual dissemination of endometrial tissues into the peritoneal cavity. Am J Obstet Gynecol. 1927;14(4):422-69. DOI: 10.1016/S0002-9378(15)30003-X 3. 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DOI: 10.1016/j.jsbmb.2016.02.023 PMID: 26921767 Published Issue Section License The Author transfers to the Publisher (Slovenian Medical Association) all economic copyrights following form Article 22 of the Slovene Copyright and Related Rights Act (ZASP), including the right of reproduction, the right of distribution, the rental right, the right of public performance, the right of public transmission, the right of public communication by means of phonograms and videograms, the right of public presentation, the right of broadcasting, the right of rebroadcasting, the right of secondary broadcasting, the right of communication to the public, the right of transformation, the right of audiovisual adaptation and all other rights of the author according to ZASP. 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