A peer-reviewed study suggests molecular signatures can be identified without invasive uterine sampling using whole-transcriptome sequencing and machine learning.

Research published in the International Journal of Gynecological Cancer demonstrates that molecular signals associated with endometrial cancer are detectable using a vaginal swab. The findings suggest a potential shift away from invasive diagnostic procedures currently required to evaluate the disease.

Endometrial cancer is the most common gynecologic malignancy in the US, and it is one of the few cancers with rising mortality. In 2026, the American Cancer Society (ACS) estimates more than 69,000 new cases and over 14,000 deaths. Currently, tens of thousands of women undergo invasive diagnostic procedures following abnormal or postmenopausal bleeding, though fewer than one in 10 are ultimately diagnosed with cancer.

The study, conducted by PinkDx, was designed to evaluate the long-standing belief in gynecologic oncology that molecular insight into endometrial cancer requires direct sampling of the uterus.

“The assumption has always been that you have to sample the uterus to understand what’s happening in the uterus,” says Giulia Kennedy, PhD, co-founder and chief scientific officer of PinkDx, in a release. “Our findings challenge that assumption. We show that molecular signals associated with endometrial cancer can be detected from a vaginal swab — a result with meaningful implications for how we rethink the diagnostic experience for women.”

Methodology and Results

To test the assumption, the research team enrolled women undergoing hysterectomy and collected vaginal swabs paired with tumor tissue from surgery. Using whole-transcriptome sequencing and machine learning, the team evaluated whether molecular signatures associated with endometrial cancer could be detected in vaginal swabs without accessing the uterus itself.

The peer-reviewed evidence suggests that a different diagnostic approach may be possible, focusing on a less invasive pathway for patients.

“The gynecologic cancer diagnostic journey is too invasive, too uncertain, and too burdensome for women,” says Bonnie Anderson, co-founder, chair, and chief executive officer of PinkDx, in a release. “This peer-reviewed publication provides clear evidence that endometrial cancer signals can be detected from a vaginal swab. It represents a scientific breakthrough and a critical step toward a diagnostic pathway designed around women—not procedures.”

Clinical Implications

The findings point toward a future where non-invasive molecular insights could assist clinicians in determining which patients require further evaluation.

“These data suggest a future where a non-invasive swab could help better identify which women with abnormal or postmenopausal bleeding may warrant additional evaluation,” says Jason Wright, MD, chair of obstetrics and gynecology and obstetrician- and gynecologist-in-chief at Tufts Medical Center, in a release. “Molecular insights that inform treatment decisions without invasive sampling represent an important advance toward more patient-centered care.”

PinkDx is now advancing prospective, multi-center clinical validation studies to evaluate this approach in broader populations and to demonstrate how these molecular insights could support clinical decision-making at scale.

ID 433600951 © Viktoriia Paniot | Dreamstime.com

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