Document Type
Article
Publication Date
2-14-2024
Identifier
DOI: 10.1186/s13256-023-04283-4; PMCID: PMC10865573
Abstract
BACKGROUND: Ependymomas are the third most common central nervous system tumor in the pediatric population; however, spinal ependymomas in children are rare. Ependymomas affecting the spinal cord most frequently occur in adults of 20-40 years of age. The current World Health Organization classification system for ependymomas is now composed of ten different entities based on histopathology, location, and molecular studies, with evidence that the new classification system more accurately predicts clinical outcomes.
CASE PRESENTATION: We present the case of a 16-year-old Caucasian female patient with a history of type 2 neurofibromatosis with multiple schwannomas, meningioma, and spinal ependymoma. Chromosome analysis of the harvested spinal ependymoma tumor sample revealed a 46,XX,-6,+7,-22,+mar[16]/46,XX[4] karyotype. Subsequent OncoScan microarray analysis of the formalin-fixed paraffin-embedded tumor sample confirmed + 7, -22 and clarified that the marker chromosome represents chromothripsis of the entire chromosome 6 with more than 100 breakpoints. Fluorescent in situ hybridization and microarray analysis showed no evidence of MYCN amplification. The final integrated pathology diagnosis was spinal ependymoma (central nervous system World Health Organization grade 2 with no MYCN amplification.
CONCLUSION: This case adds to the existing literature of pediatric patients with spinal ependymomas and expands the cytogenetic findings that may be seen in patients with this tumor type. This case also highlights the value of cytogenetics and microarray analysis in solid tumors to provide a more accurate molecular diagnosis.
Journal Title
J Med Case Rep
Volume
18
Issue
1
First Page
95
Last Page
95
MeSH Keywords
Adult; Humans; Child; Female; Adolescent; Chromothripsis; Chromosomes, Human, Pair 6; In Situ Hybridization, Fluorescence; Spinal Cord Neoplasms; Ependymoma; Meningeal Neoplasms
Keywords
Chromothripsis; Ependymoma; Neurofibromatosis type 2; Pediatrics; Spinal ependymoma
Recommended Citation
Scott KR, Gener MA, Repnikova EA. Pediatric spinal ependymoma with chromothripsis of chromosome 6: a case report and review of the literature. J Med Case Rep. 2024;18(1):95. Published 2024 Feb 14. doi:10.1186/s13256-023-04283-4
Comments
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Publisher's Link: https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-023-04283-4