Surveillance imaging and early surgical intervention for improved CNS tumor outcomes in children with Li-Fraumeni syndrome: Children's National Hospital experience and literature review.

Autor:	Patel N; 1Division of Neurosurgery, Children's National Hospital, Washington, DC., Felton K; 2Department of Pediatric Hematology/Oncology, University of Saskatchewan College of Medicine, Saskatoon, Saskatchewan, Canada., Bhattacharya S; 3Center for Genetics Medicine Research, Children's National Hospital., Almira-Suarez MI; 4Division of Pathology, Children's National Hospital., Eze A; 3Center for Genetics Medicine Research, Children's National Hospital.; 8Brain Tumor Institute, Children's National Hospital; and., Turner J; 5Division of Genetics and Metabolism, Children's National Hospital., Keating R; 1Division of Neurosurgery, Children's National Hospital, Washington, DC.; 8Brain Tumor Institute, Children's National Hospital; and., Oluigbo C; 1Division of Neurosurgery, Children's National Hospital, Washington, DC.; 8Brain Tumor Institute, Children's National Hospital; and., Schore RJ; 6Division of Hematology/Oncology, Children's National Hospital.; 7Department of Pediatrics, School of Medicine and Health Sciences, George Washington University., Kilburn L; 6Division of Hematology/Oncology, Children's National Hospital.; 7Department of Pediatrics, School of Medicine and Health Sciences, George Washington University.; 8Brain Tumor Institute, Children's National Hospital; and., Packer RJ; 8Brain Tumor Institute, Children's National Hospital; and.; 9Center for Neuroscience and Behavioral Medicine, Children's National Hospital, Washington, DC., Myseros JS; 1Division of Neurosurgery, Children's National Hospital, Washington, DC.; 8Brain Tumor Institute, Children's National Hospital; and., Bornhorst M; 3Center for Genetics Medicine Research, Children's National Hospital.; 6Division of Hematology/Oncology, Children's National Hospital.; 7Department of Pediatrics, School of Medicine and Health Sciences, George Washington University.; 8Brain Tumor Institute, Children's National Hospital; and.; 9Center for Neuroscience and Behavioral Medicine, Children's National Hospital, Washington, DC.
Jazyk:	angličtina
Zdroj:	Journal of neurosurgery. Pediatrics [J Neurosurg Pediatr] 2023 Jan 06; Vol. 31 (3), pp. 258-267. Date of Electronic Publication: 2023 Jan 06 (Print Publication: 2023).
DOI:	10.3171/2022.12.PEDS22261
Abstrakt:	Objective: 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. Methods: 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. Results: 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. Conclusions: 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).
Databáze:	MEDLINE
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