Leicester Researchers Developing New Blood Test for Rare Womb Cancer Which Could Save Lives

Researchers at the University of Leicester are developing a pioneering blood test to diagnose uterine sarcoma, a rare and often misdiagnosed form of womb cancer. The breakthrough could lead to faster, more accurate diagnoses and improved treatment outcomes.

Uterine sarcomas account for just three out of every 100 womb cancer cases but are difficult to distinguish from fibroids due to their similar symptoms and appearances on scans. Currently, diagnostic biopsies detect only one in three cases, as most uterine sarcomas develop in the muscle of the womb rather than the lining.

Dr. Esther Moss, Associate Professor in Gynaecological Oncology (pictured above), along with Professors Jacqui Shaw and Natalie Darko from the University of Leicester and the NIHR Leicester Biomedical Research Centre, has received funding from the Eve Appeal to advance this novel diagnostic approach. Additionally, Sarcoma UK has provided funding for further research into diagnostic delays and patient experiences.

A Game-Changing Approach to Diagnosis

The new blood test utilizes circulating tumor DNA (ctDNA), small genetic fragments released by cancer cells into the bloodstream. By identifying specific genetic markers unique to uterine sarcomas, researchers aim to create a highly reliable diagnostic tool.

“Our aim is to pilot a blood test based on ctDNA that will offer a clearer diagnosis, enabling more informed treatment decisions,” said Dr. Moss. “By analyzing blood and tissue samples from patients diagnosed with or suspected of having uterine sarcoma, we hope to find genetic patterns that differentiate sarcomas from fibroids and other womb cancers.”

If successful, this test will significantly reduce delays in diagnosis, allowing patients to begin the correct treatment sooner. The research also aims to address health disparities, as Black women—who are at higher risk of both fibroids and uterine sarcomas—often face greater challenges in receiving timely and accurate diagnoses.

Understanding Diagnostic Delays

In addition to developing the blood test, Dr. Moss, alongside Dr. Clare Gillies and Dr. Elpida Vounzoulaki, is studying the experiences of 234 uterine sarcoma patients. By analyzing their diagnostic journeys—from initial GP visits to specialist referrals—the researchers hope to identify common barriers and recommend improvements to national referral guidelines.

“Understanding the symptoms and referral pathways of sarcoma patients will help us refine current guidelines to ensure more cases are detected earlier,” Dr. Moss explained. “This research could lead to vital changes in diagnostic procedures, improving patient outcomes.”

A Patient’s Perspective: Hayley Brewer’s Journey

Hayley Brewer, a 39-year-old mother of two, is among those whose cancer was initially misdiagnosed as fibroids. Despite experiencing severe bloating and heavy periods, she was initially told by her GP that she was perimenopausal.

After continued suffering and worsening symptoms, further examinations revealed a large abdominal mass. Though doctors initially believed it to be fibroids, additional tests confirmed she had endometrial stromal sarcoma, a rare subtype of uterine sarcoma.

“It was such a scary diagnosis to receive, and there wasn’t much information available,” Hayley said. “I found a support group through Sarcoma UK, which has been a lifeline for me.”

Following a full hysterectomy last year, Hayley is now in menopause but remains cancer-free. Her experience highlights the urgent need for better diagnostic tools and faster referrals.

A Step Toward Improved Cancer Care

Sarcoma UK’s Director of Research, Policy, and Support, Dr. Sorrel Bickley, emphasized the potential impact of this research: “Hayley’s story is not uncommon. Many women experience significant delays in getting an accurate diagnosis. By investigating diagnostic barriers, this research has the potential to transform patient care and save lives.”

With these promising advancements, the new blood test could revolutionize the early detection of uterine sarcomas, ensuring patients receive the timely care they need. The work being undertaken at the University of Leicester marks a critical step forward in the fight against rare gynecological cancers.