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Review
. 2024 Feb 21;13(5):1223.
doi: 10.3390/jcm13051223.

Whole-Body MRI Screening for Carriers of Germline TP53 Mutations-A Systematic Review and Meta-Analysis

Hugo C Temperley  1   2 , Niall J O'Sullivan  1 , Benjamin M Mac Curtain  3 , Wanyang Qian  4 , Tatiana S Temperley  5 , Alannah Murray  2 , Alison Corr  1 , Ian Brennan  1 , David Gallagher  6 , James F Meaney  1 , Michael E Kelly  2
Affiliations
Review

Whole-Body MRI Screening for Carriers of Germline TP53 Mutations-A Systematic Review and Meta-Analysis

Hugo C Temperley et al. J Clin Med. .

Abstract

Purpose: This systematic review evaluated whole-body MRI (WB-MRI) as a cancer screening tool for individuals carrying germline TP53 mutations, a population known to be at a significantly elevated risk of malignancy. The primary objective is to assess the diagnostic performance of WB-MRI in detecting cancer in this cohort.

Methods: PubMed, MEDLINE, EMBASE and the Cochrane Central Registry of Controlled Trials were searched until 18 August 2023. Eligible studies were selected based on predefined inclusion criteria. The data extracted included information on study characteristics, patient demographics, and the WB-MRI diagnostic performance.

Results: This systematic review identified eight eligible studies, comprising 506 TP53 mutation carriers. The mean age was 34.6 ± 16.3 (range 1-74) years. In total, 321/506 (63.4%) of the patients were female and 185/506 (36.6%) were male. In addition, 267/506 (52.8%) had a previous oncological diagnosis. Thirty-six new cancers were diagnosed with WB-MRI (36/506 (7.1%)). The overall pooled proportion of cancer detected on MRI was 7% (95% confidence interval 5-10). In total, 44 new lesions were picked up, as multiple lesions were found in some patients.

Conclusion: WB-MRI is an effective cancer screening tool for TP53 mutation carriers. While these findings suggest the potential for WB-MRI to contribute to early cancer detection in this high-risk population, further research and the standardisation of protocols internationally are warranted to optimise its clinical utility.

Keywords: Li-Fraumeni syndrome; TP53 mutations; cancer screening; whole-body MRI.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
PRISMA flowchart outlining the systematic search process.
Figure 2
Figure 2
Overall pooled proportion of cancer detected on MRI. ES: Effect Sizes [12,13,20,25,33,34,35,36].
See this image and copyright information in PMC

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