NIHR Leicester BRC researchers are hoping to make ground-breaking advances into diagnosing a rare gynaecological cancer thanks to new funding.
Uterine Sarcomas make up three out of 100 cancers of 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).
Typically, womb cancer is diagnosed through a biopsy taken from the womb lining, or endometrium, but these are only able to pick up one in three uterine sarcomas, which can lead to a delayed or incorrect diagnosis.
Now, Dr Esther Moss, Associate Professor of Gynaecological Oncology along with academic colleagues at the University of Leicester, have been awarded funding from two cancer charities aimed at increasing the understanding of how these cancers behave and improving the diagnostic pathway.
Funding from The Eve Appeal aims to develop a blood test which can diagnose uterine sarcomas with much greater accuracy, and funding from Sarcoma UK aims to explore patients’ referral pathways and factors that are contributing to late diagnosis.
The blood test aims to help medical professionals distinguish fibroids from uterine sarcomas, supporting earlier diagnosis and patient decision making.
Hayley Brewer’s cancer was mistaken for fibroids.
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.
“I’m so glad that I got my diagnosis when I did and that I could go down this treatment path. I often wonder what would have happened if I hadn’t had the MRI scan and I’d been treated for fibroids.
“Uterine Sarcoma may be relatively rare but so few women know about it or its symptoms. I talk to women of all ages who’ve received a diagnosis and I’m glad we have each other for support.
“Anything that can be done to help get an earlier diagnosis, raise awareness of this type of cancer and potentially save lives has to be welcomed.”
Dr Moss will be working with Professor Jacqui Shaw, Professor of Translational Cancer Genetics and Dr Natalie Darko, Associate Professor Health Equity from the University of Leicester, and the study will be open for patients treated at Leicester’s Hospitals in the coming months.
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. If successful, the blood test will help women and people with a uterus get a quicker diagnosis enabling them to begin the correct treatment faster, and ultimately hopefully 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.”
The funding from Sarcoma UK will enable the GP and hospital data of a large number of patients diagnosed with a uterine sarcoma to be explored to better understand the challenges and barriers to early referral and diagnosis.
Dr Moss will be working with Dr Clare Gillies, Associate Professor in Medical Statistics and Dr Elpida Vounzoulaki, an epidemiologist, to look at the common symptoms that patients with sarcoma experience and whether changes to the current national referral guidelines could improve early diagnosis.
Dr Moss added: “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 be a big step towards making a real difference to women with uterine sarcoma.”
Athena Lamnisos, Chief Executive Officer of The Eve Appeal, said: “This work has the potential to transform diagnosis and care for women with uterine sarcomas.”
Sarcoma UK’s Director of Research, Policy and Support Dr Sorrel Bickley said: “We are proud to fund this vital research by Dr Moss and her team at the University of Leicester.
“Hayley’s story of being initially misdiagnosed with fibroids, unfortunately, reflects the experience of many uterine sarcoma patients. When women like Hayley have 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.”
For more on Sarcoma UK please visit: Home | Sarcoma UK
For more on the Eve Appeal please visit: We are the leading gynae cancers charity – The Eve Appeal
For more on the work of the Cancer theme of the NIHR Leicester BRC please visit their pages.