Observational studyESMO open2026
SIGNIFIED: whole-body MRI screening in Li-Fraumeni syndrome in the UK.
Observational study in ESMO open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLi-Fraumeni syndrome (LFS), caused by a pathogenic germline variant of the TP53 tumour suppressor gene, is an autosomal dominant condition that predisposes affected individuals to multiple cancers at a young age. International guidelines recommend yearly screening to identify cancers: in addition to annual breast magnetic resonance imaging (MRI) in female patients and full dermatological skin check, patients should undergo whole-body imaging. Whole-body MRI (WB-MRI) can image from vertex to toes in a single examination, without the use of ionising radiation. We aimed to assess the utility of WB-MRI in detecting malignancies in LFS patients. MATERIALS AND
methodsSIGNIFIED was a prospective, exploratory and observational study. Patients with LFS were identified and invited to undergo two WB-MRIs 12 months apart. WB-MRI was carried out at 1.5 T from vertex to toes without contrast, including axial T1-, T2- and diffusion-weighted imaging. Images were reviewed independently by two experienced oncological radiologists. Suspicious lesions and incidental findings were discussed in a multidisciplinary meeting, with further investigation and management carried out on a case-by-case basis.
resultsBetween July 2022 and August 2023, 54 individuals (14 males, 40 females) with LFS underwent a baseline WB-MRI within the study. Fifty patients had a second scan ∼12 months later. Following the first WB-MRI, nine patients underwent biopsy/excision (16.7%), and four cancers were diagnosed (7.4%). Five patients developed interval cancer between the first and second WB-MRI. These were either outside of the initial WB-MRI field of view (i.e. upper limb sarcoma, breast carcinoma) or had developed clinically since the initial scan. Six patients (12%) were diagnosed with a cancer following the second WB-MRI. Seven (70%) out of the 10 cancers detected overall by both scans were in an early stage, and the remaining 3 (30%) were locally advanced or metastatic.
conclusionWB-MRI can identify early cancers in the high-risk setting of LFS screening, with cancers detected at both baseline and 12-month follow-up screenings. The burden of additional investigations for incidental findings decreases with repeat imaging.
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