Routine MRI scans detect cancers in asymptomatic patients with rare genetic condition

Findings from the SIGNIFIED study, which investigated the benefits of screening patients with Li-Fraumeni syndrome by using whole body MRI scans, were presented on Sunday 15 September at the European Society of Medical Oncology (ESMO 2024) congress.

The study, led by Dr. Angela George, clinical director of genomics and consultant medical oncologist in gynecology at the Royal Marsden and Honorary Faculty at The Institute of Cancer Research, London, looked at how annual whole-body MRI scans could catch cancers earlier for those with the rare genetic condition.

Clear evidence of significant benefit of scans

In 54 asymptomatic patients, the study found 10 cancerous growths in various parts of the body. There was a large proportion of sarcomas—cancer of the soft tissue—which in the general population are very uncommon, but for those with Li-Fraumeni disease, they are much more likely.

Li-Fraumeni is a rare syndrome, but those who have it are at a much higher risk of developing cancer due to an inherited gene. All people who have Li-Fraumeni syndrome have a 90% chance of developing one or more types of cancer in their lifetime and a 50% chance of developing cancer before the age of 30.

Dr. Angela George, Clinical Director of Genomics and Consultant Medical Oncologist in Gynecology at The Royal Marsden and Honorary Faculty at The Institute of Cancer Research, London, said, “The results of this study are clear in showing a significant benefit in the use of whole-body MRI scans to catch cancers earlier in patients with Li-Fraumeni syndrome.

“Early diagnosis is key in improving outcomes for patients in all cancer types. By catching cancer early, we have a better chance of treating it more effectively, so for the people with Li-Fraumeni syndrome in this study who received a diagnosis, this could be life changing.”