Temperley Hugo C, O'Sullivan Niall J, Mac Curtain Benjamin M, Qian Wanyang, Temperley Tatiana S, Murray Alannah, Corr Alison, Brennan Ian, Gallagher David, Meaney James F, Kelly Michael E
Department of Radiology, St. James's Hospital, D08 NHY1 Dublin, Ireland.
Department of Surgery, St. James's Hospital, D08 NHY1 Dublin, Ireland.
J Clin Med. 2024 Feb 21;13(5):1223. doi: 10.3390/jcm13051223.
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.
本系统评价评估了全身磁共振成像（WB-MRI）作为携带种系TP53突变个体的癌症筛查工具，这一人群已知患恶性肿瘤的风险显著升高。主要目的是评估WB-MRI在此队列中检测癌症的诊断性能。
检索截至2023年8月18日的PubMed、MEDLINE、EMBASE和Cochrane对照试验中央注册库。根据预定义的纳入标准选择符合条件的研究。提取的数据包括研究特征、患者人口统计学信息以及WB-MRI的诊断性能。
本系统评价确定了八项符合条件的研究，包括506名TP53突变携带者。平均年龄为34.6±16.3（范围1-74）岁。总共有321/506（63.4%）的患者为女性，185/506（36.6%）为男性。此外，267/506（52.8%）曾有肿瘤诊断史。通过WB-MRI诊断出36例新发癌症（36/506（7.1%））。MRI检测到癌症的总体合并比例为7%（95%置信区间5-10）。总共发现了44个新病灶，因为在一些患者中发现了多个病灶。
WB-MRI是TP53突变携带者的一种有效的癌症筛查工具。虽然这些发现表明WB-MRI在这一高危人群中有助于早期癌症检测的潜力，但有必要进行进一步的研究并在国际上对方案进行标准化，以优化其临床应用。
