Endometriosis, 3D illustration
Credit: TUMEGGY/SCIENCE PHOTO LIBRARY/Getty Images

Researchers at the Feinstein Institutes published research findings yesterday in BMC Medicine, that shows the ability to diagnose endometriosis from the molecular and genetic makeup of endometrial tissue shed into the menstrual effluent (ME). The findings bring the possibility of a non-invasive diagnostic for this common debilitating condition that affects as many one-in-ten women and can take as long as 10 years to properly diagnose using current techniques. Research into genetic and cellular makeup of ME to diagnose endometriosis has been ongoing for the past seven years at Feinstein.

Endometriosis occurs when uterine-like tissues grow outside of the uterus and form lesions. The condition results in chronic fatigue, often debilitating pain, or infertility, and other complications. The only definitive diagnostic method available today is invasive laparoscopic surgery. Because non-surgical diagnostic tools are lacking, it can often take seven to 10 years to be diagnosed with endometriosis.

The research, led by Peter Gregersen, MD, and Christine Metz, PhD, employed single-cell RNA-sequencing (scRNA-Seq) to compare endometrial tissues in freshly collected ME from 33 study participants comprising healthy controls and those already diagnosed with endometriosis.

“Millions of adolescents and women suffer from endometriosis without a proper diagnosis, delaying their care and extending their pain,” said Metz, a professor in the Institute of Molecular Medicine at the Feinstein Institutes and co-director of Research OutSmarts Endometriosis (ROSE) study. “This new paper describes the potential for a novel screening tool to identify endometriosis earlier and enable patients to get the help they need.”

As the team looked to develop definitive biomarkers that are hallmarks of the condition, they discovered a unique subcluster of proliferating uterine natural killer (uNK) cells in ME-tissues from the health control group that is almost absent from endometriosis cases, along with a striking reduction of total uNK cells in the ME of the samples of study participants with endometriosis.

The investigators noted that this signature, when combined with existing clinical symptoms of women has the potential to screen or diagnose adolescents and women with this condition.

“ROSE study research helps us understand the molecular and genetic makeup of endometrial tissues in ME from women with endometriosis,” said Gregersen, professor in the Institute of Molecular Medicine at the Feinstein Institutes and co-director of the ROSE. “More than 2,000 women have participated in the ROSE study to date and we are grateful to them for helping us to produce knowledge that will improve patients’ lives.”

The team continues to build on this work and has initiated a clinical trial to validate their findings. In the trial, the researchers will compare ME from symptomatic women who have not been diagnosed but will undergo the necessary surgery as part of their standard care to determine if they have the condition. Studies are also underway to investigate ME in symptomatic and non-symptomatic adolescents to predict endometriosis at earlier ages and stages.

“While endometriosis is a common condition, there continues to be a lack of diagnosis and proper early intervention,” said Kevin J. Tracey, MD, president and CEO of the Feinstein Institutes. “These important findings by Drs. Gregersen and Metz hold promise to change our understanding of this disease and focus on improving the diagnosis and care they need.”

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