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

Li-Fraumeni syndrome TP53 mutations cancer screening whole-body MRI

Journal

Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588

Informations de publication

Date de publication:
21 Feb 2024
Historique:
received: 23 01 2024
revised: 08 02 2024
accepted: 16 02 2024
medline: 9 4 2024
pubmed: 9 4 2024
entrez: 9 4 2024
Statut: epublish

Résumé

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. 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. 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. 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.

Identifiants

pubmed: 38592011
pii: jcm13051223
doi: 10.3390/jcm13051223
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Auteurs

Hugo C Temperley (HC)

Department of Radiology, St. James's Hospital, D08 NHY1 Dublin, Ireland.
Department of Surgery, St. James's Hospital, D08 NHY1 Dublin, Ireland.

Niall J O'Sullivan (NJ)

Department of Radiology, St. James's Hospital, D08 NHY1 Dublin, Ireland.

Benjamin M Mac Curtain (BM)

Department of Urology, St. Vincent's University Hospital, D04 T6F4 Dublin, Ireland.

Wanyang Qian (W)

St John of God Midland Hospital, Midland, WA 6056, Australia.

Tatiana S Temperley (TS)

School of Medicine, University of Limerick, V94 T9PX Limerick, Ireland.

Alannah Murray (A)

Department of Surgery, St. James's Hospital, D08 NHY1 Dublin, Ireland.

Alison Corr (A)

Department of Radiology, St. James's Hospital, D08 NHY1 Dublin, Ireland.

Ian Brennan (I)

Department of Radiology, St. James's Hospital, D08 NHY1 Dublin, Ireland.

David Gallagher (D)

Department of Genetics, St. James's Hospital, D08 NHY1 Dublin, Ireland.

James F Meaney (JF)

Department of Radiology, St. James's Hospital, D08 NHY1 Dublin, Ireland.

Michael E Kelly (ME)

Department of Surgery, St. James's Hospital, D08 NHY1 Dublin, Ireland.

Classifications MeSH