Journal of neuro-oncology · 2026
Pediatric ependymoma in the molecular era: real-world experience with diagnostic correlation and long-term clinical outcomes.
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Trkova Katerina, Vicha Ales, Sumerauer David, Ghasemi David R, Ramaswamy Vijay, Krskova Lenka, Koblizek Miroslav, Zamecnik Josef, Kyncl Martin, Ondrova Barbora, Stolova Lucie, Rybkova Marie, Horcicakova Katarina, Benes Vladimir, Rutkowski Stefan, Zapotocky Michal
Аннотация
PURPOSE: Real-world longitudinal data documenting the diagnostic impact of DNA methylation array (MA) profiling in pediatric ependymoma remain sparse. We report a single-center retrospective analysis evaluating MA-driven reclassification, molecular subgroup distribution, and long-term survival outcomes in a national pediatric referral cohort.
METHODS: Sixty-three pediatric patients with a histological ependymoma diagnosis treated at Motol and Homolka University Hospital (2010-2025) were included. DNA methylation profiling, RNA sequencing, copy number variation and t-SNE analysis were performed. Survival was estimated by the Kaplan-Meier method.
RESULTS: MA confirmed ependymoma in 48 patients (76.2%) and reclassified 15 (23.8%) as non-ependymoma entities, including newly described tumor types. The reclassification rate was 36.1% in the pre-2019 cohort versus 7.4% post-2019. Posterior fossa group A (PFA) ependymoma was the predominant subgroup (n = 26). Ten-year overall survival (OS) was 69.6% and event-free survival (EFS) 47.7%. Gross total resection was the only factor significantly associated with improved survival (OS 75% vs. 40%, p = 0.017). Chromosome 1q gain, identified exclusively in PFA patients, was associated with a high relapse rate despite standard therapy.
CONCLUSION: MA-driven reclassification affected nearly one quarter of patients, with substantially higher rates in the pre-molecular era, confirming that integrated molecular diagnosis is indispensable in all pediatric CNS tumors referred with a histological diagnosis of ependymoma.
METHODS: Sixty-three pediatric patients with a histological ependymoma diagnosis treated at Motol and Homolka University Hospital (2010-2025) were included. DNA methylation profiling, RNA sequencing, copy number variation and t-SNE analysis were performed. Survival was estimated by the Kaplan-Meier method.
RESULTS: MA confirmed ependymoma in 48 patients (76.2%) and reclassified 15 (23.8%) as non-ependymoma entities, including newly described tumor types. The reclassification rate was 36.1% in the pre-2019 cohort versus 7.4% post-2019. Posterior fossa group A (PFA) ependymoma was the predominant subgroup (n = 26). Ten-year overall survival (OS) was 69.6% and event-free survival (EFS) 47.7%. Gross total resection was the only factor significantly associated with improved survival (OS 75% vs. 40%, p = 0.017). Chromosome 1q gain, identified exclusively in PFA patients, was associated with a high relapse rate despite standard therapy.
CONCLUSION: MA-driven reclassification affected nearly one quarter of patients, with substantially higher rates in the pre-molecular era, confirming that integrated molecular diagnosis is indispensable in all pediatric CNS tumors referred with a histological diagnosis of ependymoma.