Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls

This study sought to investigate the role of one-off non-contrast whole-body MRI (WB MRI) in the screening of asymptomaticTP53 mutation carriers. 44TP53 mutation carriers and 44 population controls were recruited. Scans were read by radiologists blinded to participant carrier status. The incidence of malignancies diagnosed inTP53 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. InTP53 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). T he cancer detection rate in this group justifies a minimum baseline non-contrast WB MRI in germlineTP53 mutation carriers. This should be adopted into national guidelines for management of adultTP53 mutation carriers in addition to the current practice of contrast enhanced...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research