关键词: Li-Fraumeni syndrome TP53 mutations cancer screening whole-body MRI

来  源:   DOI:10.3390/jcm13051223   PDF(Pubmed)

Abstract:
OBJECTIVE: 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.
CONCLUSIONS: 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.
摘要:
目的:本系统综述评估了全身MRI(WB-MRI)作为携带种系TP53突变的个体的癌症筛查工具,已知恶性肿瘤风险显著升高的人群。主要目的是评估WB-MRI在该队列中检测癌症的诊断性能。
方法:PubMed,MEDLINE,EMBASE和Cochrane中央控制试验登记处一直搜索到2023年8月18日。根据预定的纳入标准选择合格的研究。提取的数据包括有关研究特征的信息,患者人口统计学,和WB-MRI诊断性能。
结果:本系统评价确定了8项符合条件的研究,包括506个TP53突变携带者。平均年龄为34.6±16.3(范围1-74)岁。总的来说,321/506(63.4%)患者为女性,185/506(36.6%)为男性。此外,267/506(52.8%)以前有肿瘤诊断。通过WB-MRI诊断出36种新癌症(36/506(7.1%))。在MRI上检测到的癌症的总合并比例为7%(95%置信区间5-10)。总的来说,发现了44个新的病灶,因为在一些患者中发现了多发性病变。
结论:WB-MRI是TP53突变携带者的有效癌症筛查工具。虽然这些发现表明WB-MRI可能有助于在这个高危人群中早期发现癌症,为了优化其临床应用,有必要进行进一步的研究和国际标准化方案.
公众号