Researchers from the U.S. National Cancer Institute (NCI) have discovered a greater-than-expected rate of cancer following baseline whole-body MRI screenings for people with Li-Fraumeni syndrome (LFS), according to a study published online August 3 in JAMA Oncology.
The syndrome is a rare hereditary disorder that leads to a higher risk of developing certain cancers. The condition is most often caused by mutations in a tumor suppressor gene known as TP53 and can lead to various cancers, which infiltrate bone and soft tissues, breasts, the brain, and adrenal glands.
It often occurs in young people, who then have an approximately 50% chance of developing cancer by age 40 and up to a 90% chance by age 60. These same patients also have been known to develop more than one primary cancer over their lifetime.
In this study, researchers led by Dr. Sharon Savage, from NCI's Division of Cancer Epidemiology and Genetics, modified a previously published cancer surveillance protocol to screen 116 LFS patients with germ line TP53 mutations. The subjects underwent various scans, including mammography; abdominal ultrasound; whole-body, brain, and breast MRI; as well as colonoscopy and blood tests. Excluded were imaging modalities with ionizing radiation, since patients with LFS appear to be radiosensitive.
The researchers found that 40 trial participants (34%) had abnormalities that required follow-up based on the trio of MRI scans. Eight patients (7%) were diagnosed with a new primary cancer. All but one of the cancers required surgery. In comparison, non-MRI scans did not lead to a cancer diagnosis at baseline screening.
The findings support whole-body MRI screening for individuals with LFS, the study authors wrote. With long-term follow-up, additional refinement, and international collaborations, the researchers hope to establish a screening regimen that could extend and improve the lives of this unique patient population.
