1Division of Neurosurgery, Children's National Hospital, Washington, DC.
2Department of Pediatric Hematology/Oncology, University of Saskatchewan College of Medicine, Saskatoon, Saskatchewan, Canada.
J Neurosurg Pediatr. 2023 Jan 6;31(3):258-267. doi: 10.3171/2022.12.PEDS22261. Print 2023 Mar 1.
Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by germline mutations in the TP53 gene. CNS tumors are the fourth most common tumor type in LFS, and recent screening guidelines demonstrate that early tumor detection is associated with improved long-term survival. However, there is a paucity of data regarding surgical intervention when lesions are identified in asymptomatic patients on surveillance imaging. The authors investigated this through their cohort and literature review.
The cohort consisted of children seen in the Pediatric Cancer Genetics Program at Children's National Hospital between August 2012 and August 2021. The authors also include a PubMed (MEDLINE) literature search of articles from 2006 to 2021 related to surveillance and CNS tumors in patients with LFS. Studies in which CNS tumors were not identified or detailed patient information was not provided were excluded. Patients from the selected articles and the authors' cohort were added for further analysis.
Between August 2012 and August 2021, 10 children with LFS and CNS tumors were assessed at Children's National Hospital: 4 who were known carriers of the TP53 mutation had CNS lesions found on surveillance imaging, whereas 6 presented with symptomatic CNS lesions and were either known or subsequently found to have germline TP53 mutations. The literature search identified 148 articles, 7 of which were included in this review. Patients from the literature and the present cohort were added for a total of 56 CNS lesions. A majority of the low-grade CNS lesions (22/24, 92%) were found on surveillance protocols in asymptomatic patients, whereas the majority of the high-grade lesions (22/26, 85%) presented in symptomatic patients who were not undergoing routine surveillance or as the initial diagnosis of LFS. The authors noted a significant survival advantage in pediatric patients with low-grade lesions, with an overall survival of 100% at 30 months. Minor limitations of the study include patient sample size and limitations in the patient cohort due to this being a retrospective rather than a prospective study.
Data presented in this study support surveillance protocols in LFS and demonstrate the importance of dedicated CNS imaging and early surgical intervention when lesions are identified. Systematic review registration no.: CRD42022372610 (www.crd.york.ac.uk/prospero).
李-佛美尼综合征（Li-Fraumeni syndrome，LFS）是一种由 TP53 基因种系突变引起的癌症易感性综合征。中枢神经系统肿瘤是 LFS 中第四常见的肿瘤类型，最近的筛查指南表明，早期肿瘤检测与长期生存的改善相关。然而，对于在无症状患者的监测影像中发现病变时进行手术干预的情况，数据仍然很少。作者通过他们的队列和文献回顾对此进行了研究。
该队列由 2012 年 8 月至 2021 年 8 月期间在儿童国家医院儿科癌症遗传学计划中就诊的儿童组成。作者还进行了一项 PubMed（MEDLINE）文献检索，检索了 2006 年至 2021 年与 LFS 患者的监测和中枢神经系统肿瘤相关的文章。排除了未发现中枢神经系统肿瘤或未提供详细患者信息的研究。从选定的文章和作者队列中添加患者进行进一步分析。
在 2012 年 8 月至 2021 年 8 月期间，在儿童国家医院评估了 10 名患有 LFS 和中枢神经系统肿瘤的儿童：4 名已知携带 TP53 突变的患者在监测影像中发现中枢神经系统病变，而 6 名患者出现有症状的中枢神经系统病变，并且已知或随后发现有种系 TP53 突变。文献检索共确定了 148 篇文章，其中 7 篇被纳入本综述。从文献和本队列中添加了总共 56 个中枢神经系统病变。大多数低级别中枢神经系统病变（22/24，92%）在无症状患者的监测方案中发现，而大多数高级别病变（22/26，85%）在未进行常规监测或作为 LFS 初始诊断的有症状患者中发现。作者注意到低级别病变的儿科患者有显著的生存优势，30 个月的总生存率为 100%。研究的局限性包括患者样本量小，以及由于这是回顾性而不是前瞻性研究，患者队列存在局限性。
本研究中提供的数据支持 LFS 的监测方案，并表明在发现病变时进行专门的中枢神经系统成像和早期手术干预的重要性。系统评价注册号：CRD42022372610（www.crd.york.ac.uk/prospero）。
