Abstract
In the United Kingdom, current screening guidelines for TP53 germline mutation carriers solely recommends annual breast MRI, despite the wide spectrum of malignancies typically seen in this group. This study sought to investigate the role of one-off non-contrast whole-body MRI (WB MRI) in the screening of asymptomatic TP53 mutation carriers. 44 TP53 mutation carriers and 44 population controls were recruited. Scans were read by radiologists blinded to participant carrier status. The incidence of malignancies diagnosed in TP53 mutation carriers against general population controls was calculated. The incidences of non-malignant relevant disease and irrelevant disease were measured, as well as the number of investigations required to determine relevance of findings. In TP53 mutation carriers, 6 of 44 (13.6, 95% CI 5.2–27.4%) participants were diagnosed with cancer during the study, all of which would be considered life threatening if untreated. Two were found to have two primary cancers. Two participants with cancer had abnormalities on the MRI which were initially thought to be benign (a pericardial cyst and a uterine fibroid) but transpired to be sarcomas. No controls were diagnosed with cancer. Fifteen carriers (34.1, 95% CI 20.5–49.9%) and seven controls (15.9, 95% CI 6.7–30.1%) underwent further investigations following the WB MRI for abnormalities that transpired to be benign (p = 0.049). The cancer detection rate in this group justifies a minimum baseline non-contrast WB MRI in germline TP53 mutation carriers. This should be adopted into national guidelines for management of adult TP53 mutation carriers in addition to the current practice of contrast enhanced breast MRI imaging.
Highlights
Health, London, UK incidences of non-malignant relevant disease and irrelevant disease were measured, as well as the number of investigations required to determine relevance of findings
The SIGNIFY baseline whole-body MRI (WB MRI) study demonstrates an overall cancer detection rate of 9.1% in prevalent WB MRI scans in TP53 mutation carriers with no cancers identified in controls (p = 0.116)
The peak annual incidence rate for malignancy in TP53 mutation carriers is around 3% [21] the prevalence in study of 9.1% suggests there is significant lead time in the cancers detected which indicates that such screening is likely to be effective in Li-Fraumeni Syndrome (LFS)
Summary
London, UK incidences of non-malignant relevant disease and irrelevant disease were measured, as well as the number of investigations required to determine relevance of findings. The cancer detection rate in this group justifies a minimum baseline non-contrast WB MRI in germline TP53 mutation carriers. This should be adopted into national guidelines for management of adult TP53 mutation carriers in addition. Introduction controls, as well as the incidences of non-malignant relevant and irrelevant disease and the investigations required to determine relevance. In the United Kingdom, the National Institute for Health and Clinical Excellence (NICE) recommends annual breast MRI from age 20–49 years for female TP53 mutation carriers and to consider continuation of breast screening past age 50. Given the lack of radiation, WB MRI provides an attractive choice to screen this cohort of individuals with an increased susceptibility to radiation-induced neoplasms [18, 19]
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