New screening protocol for Li-Fraumeni syndrome

Researchers have found a higher than expected prevalence of cancer at baseline screening in individuals with Li-Fraumeni syndrome (LFS), the research demonstrates the feasibility of a new comprehensive cancer screening protocol for this high-risk population.

To address this gap in clinical care, researchers modified a cancer surveillance protocol from a previously published study and screened 116 LFS patients with germline TP53 mutations using a variety of tools including whole body, brain, and breast MRI, as well as mammography, colonoscopy, blood-work, and abdominal ultrasound. 

“Researchers at the National Cancer Institute (NCI) have evaluated families with LFS extensively to better understand how germline mutations in TP53 influence risk, and how best to prevent cancers or treat them at the earliest possible stage,” said Dr Fraumeni, Founding Director of Division of Cancer Epidemiology and Genetics (DCEG). “However, because of the broad spectrum of cancers in LFS families, it has been challenging to put in place universally accepted cancer strategies.”

In the study 40 trial participants had abnormalities on baseline screening examination with whole body, brain, or breast MRI that required further evaluation. Eight of these patients were diagnosed with a new primary cancer. All but one of the cancers found through screening were fully removed with surgery. In contrast, the non-MRI techniques used in the trial did not lead to a diagnosis of cancer at baseline screening.

The meta-analysis, published, involved 578 participants with LFS in 13 cohorts at multiple research centres around the world. Similarly utilising rapid whole-body MRI, the investigators had an overall detection rate of 7 percent for new primary cancers, confirming the results of the study conducted at NCI.

“The findings from this international team effort further demonstrate the utility of whole body MRI screening for individuals with LFS,” Dr Savage said. “With long-term follow-up, additional refinement, and through international collaborations, we hope to establish a screening regimen that could extend and improve the lives of this unique population.” The study was published in JAMA Oncology.