Noninvasive biomarkers of endometriosis: myth or reality?

Abstract

Endometriosis affects 10% of premenopausal women and 35–50% of women with infertility, pelvic pain, or both. At present, endometriosis can only be diagnosed with surgery, where laparoscopy is considered a gold standard. Noninvasive biomarkers are thus urgently needed. In 2010, the peripheral biomarkers of endometriosis were systematically reviewed by May et al. However, with the introduction of ‘-omics’ technologies, we have witnessed immense progress in biomarker discovery, which now calls for an overview of recent studies. This report looks at potential blood and urine biomarkers of endometriosis published in the last 3 years. The current status of noninvasive diagnostic biomarkers of endometriosis is discussed, with the limitations of these studies identified and recommendations for future biomarker discovery provided.

Keywords::

• biomarkers
• endometriosis
• metabolomics
• proteomics
• transcriptomics

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Erratum

Acknowledgements

The writing of this manuscript was supported by grants J3-4135 and J3-5510 to the author from the Slovenian Research Agency.

Financial & competing interests disclosure

The author has a patent ‘A novel method for the diagnosis of endometriosis’ WO 2013/178794A1. The author has no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.

Key issues

• Endometriosis can only be diagnosed with laparoscopy, the surgical visual inspection of the pelvic organs.

• There is an average delay of 6.7 years between the onset of symptoms and the surgical diagnosis of endometriosis, which is associated with increased infertility and severe pain for the patient, and additionally also high healthcare costs and loss of productivity costs.

• There is an urgent need for noninvasive diagnostic biomarkers of endometriosis.

• In the last 3 years, there have been 36 reports on potential biomarkers of endometriosis identified from among individual proteins and metabolites and from among panels of proteins, and also by global proteomic, transcriptomic and metabolomic approaches.

• Biomarkers with sensitivities up to 98% and specificities up to 96% have been described.

• Very good diagnostic potential has been seen for panels of proteins and miRNAs and for peptides/proteins identified by proteomics approaches.

• Further clinical validation studies are required before the implementation of noninvasive biomarkers into routine clinical use.