New blood test to diagnose rare cancer could save lives

Gynaecology experts from the University of Leicester are aiming to develop a pioneering new blood test to help diagnose a rare form of womb cancer.

Uterine Sarcomas make up three in 100 cancers in the womb or uterus and can be difficult to diagnose because they have many of the same symptoms and look similar on scans, to fibroids (non-cancerous growths in the womb).

Now, Dr Esther Moss, Associate Professor in Gynaecological Oncology, Professor Jacqui Shaw, Professor of Translational Cancer Genetics, and Dr Natalie Darko, Associate Professor Health Equity and Director of Inclusion, who are based at the University of Leicester and NIHR Leicester Biomedical Research Centre have been awarded funding from gynae cancer charity the Eve Appeal, to develop a blood test which can diagnose uterine sarcomas with much greater accuracy. 

Further funding has also been granted to Dr Moss, Dr Clare Gillies, Associate Professor in Medical Statistics and Dr Elpida Vounzoulaki, an epidemiologist, by Sarcoma UK to explore the journeys of a large number of uterine sarcoma patients to understand what common factors are contributing to late diagnosis.

Typically, womb cancer is diagnosed through biopsies taken from the womb lining (or endometrium), but these only pick up one in three uterine sarcomas because most develop in the muscle, rather than the lining of the womb. This can lead to a delayed or incorrect diagnosis. 

The blood test aims to help medical professionals distinguish fibroids from uterine sarcomas, assisting with much earlier diagnosis. 

Dr Moss explained: “Our aim is to pilot a blood test based on circulating tumour DNA (ctDNA) which will offer a clearer diagnosis, enabling more informed treatment decisions.

“Circulating tumour DNA is small fragments of genetic material released into the bloodstream by cancer cells. The team will look for circulating tumour DNA that fits the unique genetic profile of uterine sarcomas, creating a test which can distinguish if someone has a sarcoma, fibroid or other womb cancer.

“This novel study will look at samples from women who have been diagnosed with a uterine sarcoma or are scheduled for surgery for a suspected sarcoma. We will analyse their blood and tissue samples to look for patterns in the genetic profile and circulating tumour DNA that is specific to uterine sarcoma.

“If successful, the blood test will help women and people with gynae organs get an accurate and quick diagnosis of uterine sarcoma. Allowing them to begin the correct treatment faster, and ultimately improve outcomes. 

Dr Darko added: “It will also help reduce the health inequities that women of Black ethnicity currently face in the diagnosis and treatment of womb cancer, since women of Black ethnicity in particular have a higher risk of both fibroids and uterine sarcomas.”

Dr Moss added: “In addition, being able to follow the journeys of 234 sarcoma patients, from seeing their GP to hospital referrals and diagnosis, will provide invaluable insights into patients’ experiences and factors that could delay referral. We’ll also be able to look at the common symptoms patients with sarcoma present at their GP surgery, and whether the current national referral guidelines for endometrial cancers are able to detect cases. Our investigations will look at whether changes to the referral criteria could pick up more uterine sarcoma patients, and if this could also help with earlier diagnosis.

“We are thrilled that these two funding streams will allow this work to take place – uterine sarcomas are rare cancers that can have a devastating impact on patients and their families and this work will go hand in hand towards making a real difference to women with uterine sarcoma.” 

Athena Lamnisos, Chief Executive Officer of The Eve Appeal, said: “Dr Moss’s work has the potential to transform diagnosis and care for women with uterine sarcomas.”

Hayley Brewer was treated for cancer

Hayley’s cancer was mistaken for fibroids – non-cancerous growths that develop in or around the womb.

The 39-year-old mum of two first visited her GP with heavy periods and bloating only to be told she was peri-menopausal and this was normal. 

Despite having to take two changes of clothes with her to work as a teacher when she on her period, Hayley continued to suffer until a few months later she visited a different GP with severe cramps. An examination found she had an extremely distended abdomen and she was referred to hospital for checks. 

“I had an ultrasound at hospital and was told they 100 per cent thought it was fibroids,” said Hayley from Ramsbottom.

“I felt a huge amount of relief, but a second trip to gynaecology for an MRI scan, led to the conclusion it could be uterine sarcoma – the cancer diagnosis Hayley had been dreading. 

In fact, it turned out to be endometrial stromal sarcoma (ESS), a rare subtype of sarcoma cancer.

“It was such a scary diagnosis to receive and there wasn’t much information out there about it. I managed to find a support group through the charity, Sarcoma UK, and it’s been a lifeline for me – being able to talk to other women with the same diagnosis.”

Hayley had a complete hysterectomy in January last year to remove the cancer and is undergoing regular checks to ensure it hasn’t spread elsewhere. 

“The hysterectomy means I’m in full blown menopause, but my cancer is gone and hopefully it will stay that way,” adds Hayley.

Sarcoma UK's Director of Research, Policy and Support Dr Sorrel Bickley added: "Hayley's story of being initially misdiagnosed with fibroids unfortunately reflects the experience of many uterine sarcoma patients. When women like Hayley having to wait months before receiving an accurate diagnosis, it can have devastating consequences. 

“By investigating referral pathways and diagnostic barriers, this research has the potential to transform how quickly patients receive the correct diagnosis and begin appropriate treatment. Every advancement in early detection could save lives."