Single or panel of biomarkers could not diagnose, rule out endometriosis, adenomyosis

Key takeaways:

• Cancer antigen 125 biomarker performed best in endometriosis/adenomyosis vs. all controls.
• In women with only adenomyosis, secreted frizzled-related protein 4 and S100 calcium-binding protein A12 performed best.

Neither single nor a combination of biomarkers was able to successfully diagnose or rule out endometriosis and/or adenomyosis with high certainty, according to results published in the International Journal of Gynecology and Obstetrics.

“Blood-based biomarker testing may facilitate earlier endometriosis/adenomyosis diagnosis compared with current diagnostic techniques. Earlier detection may allow timely implementation of clinical management strategies and fertility procedures,” Stefanie Burghaus, MHBA, from the department of gynecology and obstetrics at University Hospital Erlangen, Germany, and colleagues wrote. “It is unlikely that this testing would replace the need for diagnostic laparoscopy, but it could be implemented to help guide clinical decision-making around further diagnostic procedures.”

Burghaus and colleagues conducted a prospective, noninterventional study of 54 blood-based biomarker immunoassays in samples from 919 women with suspicion of endometriosis and/or adenomyosis. Researchers aimed to assess the diagnostic accuracy of these biomarkers and stratified endometriosis by ASRM stage.

Of all participants, 617 had confirmed endometriosis with or without adenomyosis, 124 had confirmed adenomyosis and 178 were symptomatic controls. Of symptomatic controls, 131 women were symptomatic with pathologic findings other than endometriosis and/or adenomyosis and 47 were symptomatic controls without pathologic findings.

When test results from all women with endometriosis and/or adenomyosis were compared with those from all symptomatic controls, cancer antigen 125 (CA-125) performed the best (area under the curve = 0.645; 95% CI, 0.6-0.69) with a sensitivity of 60.6%. In addition, CA-125 increased as disease stage increased (P < .001). Compared with test results for pathology-free symptomatic controls, S100 calcium-binding protein A12 (S100-A12) had the best performance in all women with endometriosis and/or adenomyosis (AUC = 0.692; 95% CI, 0.614-0.769) with a sensitivity of 72.1%, followed by CA-125 (AUC = 0.649; 95% CI, 0.569-0.729) with a sensitivity of 58.4%.

Among women with only adenomyosis, compared with all symptomatic controls, secreted frizzled-related protein 4 (AUC = 0.615; 95% CI, 0.551-0.678) was the top-performing biomarker with a sensitivity of 56.4%. Compared with pathology-free symptomatic controls, among women with only adenomyosis, S100-A12 (AUC = 0.701; 95% CI, 0.611-0.792) was the top-performing biomarker with a sensitivity of 74.6%.

According to the researchers, these results support the idea that endometriosis and adenomyosis are highly heterogeneous conditions that encompass a wide range of disease subgroups, which makes it difficult to identify a single biomarker to diagnose or rule out endometriosis or adenomyosis.

“Further discovery studies of blood-based biomarkers in large, well-phenotyped sample sets with robust replication and validation opportunities are warranted,” the researchers wrote.