ArticleCancer imaging : the official publication of the International Cancer Imaging Society2018
Whole-body magnetic resonance imaging of Li-Fraumeni syndrome patients: observations from a two rounds screening of Brazilian patients.
Article in Cancer imaging : the official publication of the International Cancer Imaging Society, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 29 citations in OpenAlex.
- Observational
- TP53 p.R181H is enriched in the Swedish cohort (SWEP53) and associated with a distinct breast and prostate phenotype.Scientific reports · 2025Article
- Prospective Study of Annual Whole-Body Magnetic Resonance Imaging as Part of a Multimodality Screening Program for Individuals With Li-Fraumeni Syndrome.JCO precision oncology · 2025Article
- Whole-Body MRI Screening for Carriers of Germline TP53 Mutations-A Systematic Review and Meta-Analysis.Journal of clinical medicine · 2024Review
- Cancer surveillance for patients with Li-Fraumeni Syndrome in Brazil: A cost-effectiveness analysis.Lancet regional health. Americas · 2022Article
- Screening of cancer predisposition syndromes.Pediatric radiology · 2022Review
- Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.International journal of clinical oncology · 2021Article
- Blood functional assay for rapid clinical interpretation of germlineJournal of medical genetics · 2021Article
- Whole-body magnetic resonance imaging (WB-MRI) for cancer screening: recommendations for use.La Radiologia medica · 2021Review
- Radiation-Associated Sarcoma of the Breast in a Patient With a Germline Tumor Protein p53 Mutation.Cureus · 2021Article
- GermlineCancers · 2020Review
- Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes.European journal of human genetics : EJHG · 2020Article
- Penetrance of Different Cancer Types in Families with Li-Fraumeni Syndrome: A Validation Study Using Multicenter Cohorts.Cancer research · 2020Article
- Whole-body MRI within a surveillance program for carriers with clinically actionable germlineHereditary cancer in clinical practice · 2020Article
- Cost-effectiveness of early cancer surveillance for patients with Li-Fraumeni syndrome.Pediatric blood & cancer · 2019Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLi-Fraumeni syndrome (LFS) is an autosomal dominant disease that is associated with germline TP53 mutations and it predisposes affected individuals to a high risk of developing multiple tumors. In Brazil, LFS is characterized by a different pattern of TP53 variants, with the founder TP53 p.R337H mutation being predominant. The adoption of screening strategies to diagnose LFS in its early stages is a major challenge due to the diverse spectrum of tumors that LFS patients can develop. The purpose of this study was to evaluate two rounds of whole-body magnetic resonance imaging (WB-MRI) which were conducted as a screening strategy for LFS patients.
methodsOver a 4-year period, 59 LFS patients underwent two rounds of WB-MRI. Each MRI was characterized as positive or negative, and positive cases were further investigated to establish a diagnosis. The parameters used to evaluate the WB-MRI results included: positive rate, number of invasive investigations of positive results, and cancer detection rate.
resultsA total of 118 WB-MRI scans were performed. Positive results were associated with 11 patients (9.3%). Seven of these patients (11.8%) were identified in the first round of screening and 4 patients (6.7%) were identified in the second round of screening. Biopsies were performed in three cases (2.5%), two (3.4%) after the first round of screening and one (1.7%) after the second round of screening. The histopathological results confirmed a diagnosis of cancer for all three cases. There was no indication of unnecessary invasive procedures.
conclusionsWB-MRI screening of LFS carriers diagnosed cancers in their early stages. When needed, positive results were further examined with non-invasive imaging techniques. False positive results were less frequent after the first round of WB-MRI screening.
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