目的:Li-Fraumeni综合征(LFS)是一种与早发性肿瘤相关的癌症综合征。建议使用全身磁共振成像(WBMRI)进行定期癌症筛查,然而,支持无症状LFS患者获益的证据有限.本研究旨在评估WBMRI在基线和随访时种系TP53突变携带者中的临床应用。
方法:我们系统地搜索了PubMed,科克伦,和Embase数据库用于评估WBMRI作为LFS患者肿瘤筛查早期检测方法的研究。我们汇总了所包含变量的患病率及其相应的95%置信区间(CI)。使用R软件进行统计分析,版本4.3.1。
结果:从1687年的结果来看,纳入11例,共703名患者(359名女性(51%);中位年龄为32岁(IQR1-74))。在接受基线WBMRI的无症状TP53携带者中,任何可疑病变的估计检出率为31%(95%CI:0.28,0.34)。在215例患者中确定了总共277个需要临床随访的病变。在39个人的46个病变中证实了癌症。可疑病变中估计的癌症诊断率为18%(95%CI:0.13,0.25)。WBMRI在疾病早期阶段检测到46种癌症中的41种,总检出率为6%(95%CI:0.05,0.08)。每轮WBMRI的发生率为2%(95%CI:0.01,0.04),包括基线和随访。
结论:这项荟萃分析提供了证据,证明WBMRI监测对无症状LFS患者的癌症检测是有效的。
结论:我们的研究表明,全身MRI是无症状的Li-Fraumeni综合征患者早期癌症检测的有效工具,强调其在监测方案中的重要性,以改善诊断和治疗结果。
结论:目前对无症状的Li-Fraumeni综合征(LFS)患者进行全身MRI筛查的证据仍然很少。全身MRI在早期发现46种癌症中的41种,总体检出率为6%。全身MRI监测是检测无症状LFS患者癌症的一种有价值的方法。
OBJECTIVE: Li-Fraumeni syndrome (LFS) is a cancer syndrome associated with early-onset neoplasias. The use of whole-body magnetic resonance imaging (WBMRI) is recommended for regular cancer screening, however, evidence supporting the benefits in asymptomatic LFS patients is limited. This study aims to assess the clinical utility of WBMRI in germline TP53 mutation carriers at baseline and follow-up.
METHODS: We systematically searched PubMed, Cochrane, and Embase databases for studies evaluating WBMRI as an early detection method for tumor screening in patients with LFS. We pooled the prevalence of the included variables along with their corresponding 95% confidence intervals (CIs). Statistical analyses were performed using R software, version 4.3.1.
RESULTS: From 1687 results, 11 comprising 703 patients (359 females (51%); with a median age of 32 years (IQR 1-74)) were included. An estimated detection rate of 31% (95% CI: 0.28, 0.34) for any suspicious lesions was found in asymptomatic TP53 carriers who underwent baseline WBMRI. A total of 277 lesions requiring clinical follow-up were identified in 215 patients. Cancer was confirmed in 46 lesions across 39 individuals. The estimated cancer diagnosis rate among suspicious lesions was 18% (95% CI: 0.13, 0.25). WBMRI detected 41 of the 46 cancers at an early-disease stage, with an overall detection rate of 6% (95% CI: 0.05, 0.08). The incidence rate was 2% per patient round of WBMRI (95% CI: 0.01, 0.04), including baseline and follow-up.
CONCLUSIONS: This meta-analysis provides evidence that surveillance with WBMRI is effective in detecting cancers in asymptomatic patients with LFS.
CONCLUSIONS: Our study demonstrates that whole-body MRI is an effective tool for early cancer detection in asymptomatic Li-Fraumeni Syndrome patients, highlighting its importance in surveillance protocols to improve diagnosis and treatment outcomes.
CONCLUSIONS: Current evidence for whole-body MRI screening of asymptomatic Li-Fraumeni Syndrome (LFS) patients remains scarce. Whole-body MRI identified 41 out of 46 cancers at an early stage, achieving an overall detection rate of 6%. Whole-body MRI surveillance is a valuable method for detecting cancers in asymptomatic LFS patients.