{
  "abstract": "Li-Fraumeni syndrome (LFS) is a high-risk hereditary cancer predisposition syndrome affecting 1 in 5000 individuals. Current standard of care in adults includes annual whole-body MRI (WB-MRI) and MRI brain (MRB) surveillance to enable early cancer detection. We performed a retrospective single-centre study of adults with TP53 pathogenic germline variants or proven somatic mosaicism undergoing annual WB-MRI surveillance between January 2012 and January 2024, and MRB surveillance between August 2017 and January 2024. 325 WB-MRI scans were performed in 75 individuals. 17 cancers were diagnosed in 16 individuals. Nine out of 17 cancers were WB-MRI detected (7/9 had stage 1/2 disease). Benign incidental findings were identified in 89/325 (27.4%) of WB-MRI scans, prompting 53 additional investigations. As a stand-alone surveillance tool, WB-MRI demonstrated a pan-cohort specificity of 95.5%, negative predictive value of 97.4% and sensitivity of 42.9%. 32 individuals underwent 53 MRB scans detecting one cancer. We report the findings from the longest and largest single-centre experience of WB-MRI surveillance for cancer early detection in adults with LFS, demonstrating a high and acceptable level of cancer exclusion but modest sensitivity with WB-MRI prompting a significant number of additional investigations.",
  "authors": [
    {
      "affiliations": [
        "Division of Cancer Sciences, Faculty of Medicine, Biology and Health Sciences, The University of Manchester, Manchester, UK"
      ],
      "name": "Peter Sodde"
    },
    {
      "affiliations": [
        "Manchester Centre for Genomic Medicine (MCGM), Manchester University Foundation Trust, Manchester, UK"
      ],
      "name": "Zerin Hyder"
    },
    {
      "affiliations": [
        "Manchester Centre for Genomic Medicine (MCGM), Manchester University Foundation Trust, Manchester, UK"
      ],
      "name": "Sarah Pugh"
    },
    {
      "affiliations": [
        "Manchester Centre for Genomic Medicine (MCGM), Manchester University Foundation Trust, Manchester, UK"
      ],
      "name": "Fiona Lalloo"
    },
    {
      "affiliations": [
        "Centre for Life, Newcastle upon Tyne, UK"
      ],
      "name": "Richard Martin"
    },
    {
      "affiliations": [
        "Department of Radiology, Manchester University Foundation Trust, Manchester, UK"
      ],
      "name": "Calvin Soh"
    },
    {
      "affiliations": [
        "Department of Radiology, Manchester University Foundation Trust, Manchester, UK"
      ],
      "name": "Jawad Naqvi"
    },
    {
      "affiliations": [
        "Department of Radiology, Manchester University Foundation Trust, Manchester, UK"
      ],
      "name": "Richard Whitehouse"
    },
    {
      "affiliations": [
        "Manchester Centre for Genomic Medicine (MCGM), Manchester University Foundation Trust, Manchester, UK",
        "Division of Evolution, Infection and Genomics, Faculty of Medicine, Biology and Health Sciences, University of Manchester, Manchester, UK"
      ],
      "name": "D Gareth Evans"
    },
    {
      "affiliations": [
        "Division of Cancer Sciences, Faculty of Medicine, Biology and Health Sciences, The University of Manchester, Manchester, UK",
        "Manchester Centre for Genomic Medicine (MCGM), Manchester University Foundation Trust, Manchester, UK",
        "Division of Evolution, Infection and Genomics, Faculty of Medicine, Biology and Health Sciences, University of Manchester, Manchester, UK"
      ],
      "name": "Emma Roisin Woodward"
    }
  ],
  "title": "Evaluation of whole-body MRI for cancer early detection in Li-Fraumeni syndrome",
  "uid": "1c3edced-1115-572e-8918-dad6808ceb02"
}