Nina's story – How The Royal Marsden is improving early diagnosis
Funding from The Royal Marsden Cancer Charity has supported the SIGNIFIED research study, which is identifying cancer in its earliest stages for patients with an inherited condition.
Led by Dr Angela George at The Royal Marsden – Clinical Director of Genomics and Consultant Medical Oncologist in Gynaecology – the trial monitors patients with Li-Fraumeni syndrome. This is a very rare condition where people are at higher risk of developing several cancer types due to an inherited gene.
Patients on the trial receive two whole body MRI scans annually to help detect any cancer that might be present sooner.
Nina’s experience on the SIGNIFIED trial
After being treated for breast cancer twice, Nina, 70, underwent genetic tests and was diagnosed with Li-Fraumeni syndrome, which several members of her family have since tested positive for. She was referred to The Royal Marsden’s Cancer Genetics Unit and had preventative surgery, which saved her from getting ovarian cancer.
Nina was later enrolled on to the SIGNIFIED trial and, following her first scan, was diagnosed with stage 1 lung cancer – an incredibly early diagnosis that is extremely rare for this tumour type.
Over the summer of 2023, results from Nina’s second scan showed a small nodule in her abdomen that needed further investigation.
“Although I was disappointed with the news, it goes to show how amazing the SIGNIFIED surveillance programme is – two MRI scans for me and a new cancer diagnosis each time. I met with Mr Dirk Strauss at The Royal Marsden who confirmed I would need surgery to remove the abdominal nodule.”
Nina underwent surgery for a leiomyosarcoma, a rare type of soft tissue sarcoma, and is recovering well: “The surgery was not easy but all the staff at The Royal Marsden were so marvellous, they got me back on the right track very quickly. Mr Strauss believes he has removed all the cancer and I do not need any follow-up treatment. He also thinks I was saved by the SIGNIFIED study yet again!”
“I am so fortunate to be under the care of The Royal Marsden.”
“Research is the most important factor with regards to early diagnosis and improving cancer treatment,” she said. “The SIGNIFIED surveillance programme is amazing and I’m so grateful to be benefiting from it. I’m under the care of quite a few different teams at the hospital and they all work so hard, collaboratively, to look after me. I hope my participation in this trial will help others in the future.”
“I’m also extremely grateful to The Royal Marsden Cancer Charity for supporting the hospital with research like the SIGNIFIED trial. I’d like to say a heartfelt thank you to the Charity, it really makes a huge difference. It’s such a huge blow when anyone gets a cancer diagnosis – it’s difficult to hear this news and the treatment can often be difficult too. But to know there is such amazing support from the Charity and to have access to such state-of-the-art facilities, it completely changes your outlook.”
The SIGNIFIED study “making a real difference”
“People with Li-Fraumeni syndrome have a very high lifetime risk of cancer caused by an inherited change in a tumour suppressor gene known as TP53, and there is good evidence to suggest that MRI scans can help to detect cancer early."
"MRI scans are also used because CT scans would further increase these patients’ cancer risk, due to the radiation involved.” says Dr Angela George
“We have recruited over 50 patients across the UK with this specific gene mutation and the study is making a real difference – some patients are having further investigations for cancer, and we have also confirmed cases of cancer in patients who are asymptomatic, which otherwise would not have been detected and are fatal in later stages.”
The SIGNIFIED study is supported by The Royal Marsden Cancer Charity and the Small Business Research Initiative for Healthcare (SBRI) funding. This programme accelerates innovative technologies in the NHS and the wider health and social care system, tackling unmet health and care needs.
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