Whole-Body MRI Screening for Carriers of Germline TP53 Mutations—A Systematic Review and Meta-Analysis
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...
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| Format: | Article |
| Language: | English |
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MDPI AG
2024-02-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/13/5/1223 |
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| author | Hugo C. Temperley Niall J. O’Sullivan Benjamin M. Mac Curtain Wanyang Qian Tatiana S. Temperley Alannah Murray Alison Corr Ian Brennan David Gallagher James F. Meaney Michael E. Kelly |
| author_facet | Hugo C. Temperley Niall J. O’Sullivan Benjamin M. Mac Curtain Wanyang Qian Tatiana S. Temperley Alannah Murray Alison Corr Ian Brennan David Gallagher James F. Meaney Michael E. Kelly |
| author_sort | Hugo C. Temperley |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-25T00:26:44Z |
| format | Article |
| id | doaj.art-873ff2c83339478f8aceb283db492ff9 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-04-25T00:26:44Z |
| publishDate | 2024-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-873ff2c83339478f8aceb283db492ff92024-03-12T16:47:37ZengMDPI AGJournal of Clinical Medicine2077-03832024-02-01135122310.3390/jcm13051223Whole-Body MRI Screening for Carriers of Germline TP53 Mutations—A Systematic Review and Meta-AnalysisHugo C. Temperley0Niall J. O’Sullivan1Benjamin M. Mac Curtain2Wanyang Qian3Tatiana S. Temperley4Alannah Murray5Alison Corr6Ian Brennan7David Gallagher8James F. Meaney9Michael E. Kelly10Department of Radiology, St. James’s Hospital, D08 NHY1 Dublin, IrelandDepartment of Radiology, St. James’s Hospital, D08 NHY1 Dublin, IrelandDepartment of Urology, St. Vincent’s University Hospital, D04 T6F4 Dublin, IrelandSt John of God Midland Hospital, Midland, WA 6056, AustraliaSchool of Medicine, University of Limerick, V94 T9PX Limerick, IrelandDepartment of Surgery, St. James’s Hospital, D08 NHY1 Dublin, IrelandDepartment of Radiology, St. James’s Hospital, D08 NHY1 Dublin, IrelandDepartment of Radiology, St. James’s Hospital, D08 NHY1 Dublin, IrelandDepartment of Genetics, St. James’s Hospital, D08 NHY1 Dublin, IrelandDepartment of Radiology, St. James’s Hospital, D08 NHY1 Dublin, IrelandDepartment of Surgery, St. James’s Hospital, D08 NHY1 Dublin, IrelandPurpose: 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.https://www.mdpi.com/2077-0383/13/5/1223whole-body MRIcancer screeningTP53 mutationsLi-Fraumeni syndrome |
| spellingShingle | Hugo C. Temperley Niall J. O’Sullivan Benjamin M. Mac Curtain Wanyang Qian Tatiana S. Temperley Alannah Murray Alison Corr Ian Brennan David Gallagher James F. Meaney Michael E. Kelly Whole-Body MRI Screening for Carriers of Germline TP53 Mutations—A Systematic Review and Meta-Analysis Journal of Clinical Medicine whole-body MRI cancer screening TP53 mutations Li-Fraumeni syndrome |
| title | Whole-Body MRI Screening for Carriers of Germline TP53 Mutations—A Systematic Review and Meta-Analysis |
| title_full | Whole-Body MRI Screening for Carriers of Germline TP53 Mutations—A Systematic Review and Meta-Analysis |
| title_fullStr | Whole-Body MRI Screening for Carriers of Germline TP53 Mutations—A Systematic Review and Meta-Analysis |
| title_full_unstemmed | Whole-Body MRI Screening for Carriers of Germline TP53 Mutations—A Systematic Review and Meta-Analysis |
| title_short | Whole-Body MRI Screening for Carriers of Germline TP53 Mutations—A Systematic Review and Meta-Analysis |
| title_sort | whole body mri screening for carriers of germline tp53 mutations a systematic review and meta analysis |
| topic | whole-body MRI cancer screening TP53 mutations Li-Fraumeni syndrome |
| url | https://www.mdpi.com/2077-0383/13/5/1223 |
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