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Baseline surveillance in Li Fraumeni syndrome using whole-body MRI: a systematic review and updated meta-analysis.

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Title: Baseline surveillance in Li Fraumeni syndrome using whole-body MRI: a systematic review and updated meta-analysis.
Authors: Dacoregio, Maria Inez1 (AUTHOR) mdacoregio@unicentro.edu.br, Abrahão Reis, Pedro Cotta2 (AUTHOR), Gonçalves Celso, Davi Said3 (AUTHOR), Romero, Lorena Escalante4 (AUTHOR), Altmayer, Stephan5 (AUTHOR), Vilbert, Maysa6 (AUTHOR), Moraes, Fabio Ynoe7 (AUTHOR), Gomy, Israel8 (AUTHOR)
Source: European Radiology. Feb2025, Vol. 35 Issue 2, p643-651. 9p.
Subjects: Early detection of cancer, Li-Fraumeni syndrome, Tumor suppressor proteins, Asymptomatic patients, Medical sciences
Abstract: Objectives: Li-Fraumeni syndrome (LFS) is a cancer syndrome associated with early-onset neoplasias. The use of whole-body magnetic resonance imaging (WBMRI) is recommended for regular cancer screening, however, evidence supporting the benefits in asymptomatic LFS patients is limited. This study aims to assess the clinical utility of WBMRI in germline TP53 mutation carriers at baseline and follow-up. Materials and methods: We systematically searched PubMed, Cochrane, and Embase databases for studies evaluating WBMRI as an early detection method for tumor screening in patients with LFS. We pooled the prevalence of the included variables along with their corresponding 95% confidence intervals (CIs). Statistical analyses were performed using R software, version 4.3.1. Results: From 1687 results, 11 comprising 703 patients (359 females (51%); with a median age of 32 years (IQR 1–74)) were included. An estimated detection rate of 31% (95% CI: 0.28, 0.34) for any suspicious lesions was found in asymptomatic TP53 carriers who underwent baseline WBMRI. A total of 277 lesions requiring clinical follow-up were identified in 215 patients. Cancer was confirmed in 46 lesions across 39 individuals. The estimated cancer diagnosis rate among suspicious lesions was 18% (95% CI: 0.13, 0.25). WBMRI detected 41 of the 46 cancers at an early-disease stage, with an overall detection rate of 6% (95% CI: 0.05, 0.08). The incidence rate was 2% per patient round of WBMRI (95% CI: 0.01, 0.04), including baseline and follow-up. Conclusion: This meta-analysis provides evidence that surveillance with WBMRI is effective in detecting cancers in asymptomatic patients with LFS. Clinical relevance statement: Our study demonstrates that whole-body MRI is an effective tool for early cancer detection in asymptomatic Li-Fraumeni Syndrome patients, highlighting its importance in surveillance protocols to improve diagnosis and treatment outcomes. Key Points: Current evidence for whole-body MRI screening of asymptomatic Li-Fraumeni Syndrome (LFS) patients remains scarce. Whole-body MRI identified 41 out of 46 cancers at an early stage, achieving an overall detection rate of 6%. Whole-body MRI surveillance is a valuable method for detecting cancers in asymptomatic LFS patients. [ABSTRACT FROM AUTHOR]
Copyright of European Radiology is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: Baseline surveillance in Li Fraumeni syndrome using whole-body MRI: a systematic review and updated meta-analysis.
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  Data: <searchLink fieldCode="AR" term="%22Dacoregio%2C+Maria+Inez%22">Dacoregio, Maria Inez</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> mdacoregio@unicentro.edu.br</i><br /><searchLink fieldCode="AR" term="%22Abrahão+Reis%2C+Pedro+Cotta%22">Abrahão Reis, Pedro Cotta</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gonçalves+Celso%2C+Davi+Said%22">Gonçalves Celso, Davi Said</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Romero%2C+Lorena+Escalante%22">Romero, Lorena Escalante</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Altmayer%2C+Stephan%22">Altmayer, Stephan</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Vilbert%2C+Maysa%22">Vilbert, Maysa</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Moraes%2C+Fabio+Ynoe%22">Moraes, Fabio Ynoe</searchLink><relatesTo>7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gomy%2C+Israel%22">Gomy, Israel</searchLink><relatesTo>8</relatesTo> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22European+Radiology%22">European Radiology</searchLink>. Feb2025, Vol. 35 Issue 2, p643-651. 9p.
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  Data: <searchLink fieldCode="DE" term="%22Early+detection+of+cancer%22">Early detection of cancer</searchLink><br /><searchLink fieldCode="DE" term="%22Li-Fraumeni+syndrome%22">Li-Fraumeni syndrome</searchLink><br /><searchLink fieldCode="DE" term="%22Tumor+suppressor+proteins%22">Tumor suppressor proteins</searchLink><br /><searchLink fieldCode="DE" term="%22Asymptomatic+patients%22">Asymptomatic patients</searchLink><br /><searchLink fieldCode="DE" term="%22Medical+sciences%22">Medical sciences</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Objectives: Li-Fraumeni syndrome (LFS) is a cancer syndrome associated with early-onset neoplasias. The use of whole-body magnetic resonance imaging (WBMRI) is recommended for regular cancer screening, however, evidence supporting the benefits in asymptomatic LFS patients is limited. This study aims to assess the clinical utility of WBMRI in germline TP53 mutation carriers at baseline and follow-up. Materials and methods: We systematically searched PubMed, Cochrane, and Embase databases for studies evaluating WBMRI as an early detection method for tumor screening in patients with LFS. We pooled the prevalence of the included variables along with their corresponding 95% confidence intervals (CIs). Statistical analyses were performed using R software, version 4.3.1. Results: From 1687 results, 11 comprising 703 patients (359 females (51%); with a median age of 32 years (IQR 1–74)) were included. An estimated detection rate of 31% (95% CI: 0.28, 0.34) for any suspicious lesions was found in asymptomatic TP53 carriers who underwent baseline WBMRI. A total of 277 lesions requiring clinical follow-up were identified in 215 patients. Cancer was confirmed in 46 lesions across 39 individuals. The estimated cancer diagnosis rate among suspicious lesions was 18% (95% CI: 0.13, 0.25). WBMRI detected 41 of the 46 cancers at an early-disease stage, with an overall detection rate of 6% (95% CI: 0.05, 0.08). The incidence rate was 2% per patient round of WBMRI (95% CI: 0.01, 0.04), including baseline and follow-up. Conclusion: This meta-analysis provides evidence that surveillance with WBMRI is effective in detecting cancers in asymptomatic patients with LFS. Clinical relevance statement: Our study demonstrates that whole-body MRI is an effective tool for early cancer detection in asymptomatic Li-Fraumeni Syndrome patients, highlighting its importance in surveillance protocols to improve diagnosis and treatment outcomes. Key Points: Current evidence for whole-body MRI screening of asymptomatic Li-Fraumeni Syndrome (LFS) patients remains scarce. Whole-body MRI identified 41 out of 46 cancers at an early stage, achieving an overall detection rate of 6%. Whole-body MRI surveillance is a valuable method for detecting cancers in asymptomatic LFS patients. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
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  Data: <i>Copyright of European Radiology is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.1007/s00330-024-10983-2
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              Text: Feb2025
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