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Purpose <p>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.</p> Methods <p>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.</p> Results <p>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 (<i>n</i> = 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%, <i>p</i> = 0.017). Chromosome 1q gain, identified exclusively in PFA patients, was associated with a high relapse rate despite standard therapy.</p> Conclusion <p>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.</p>

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Pediatric ependymoma in the molecular era: real-world experience with diagnostic correlation and long-term clinical outcomes

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年8月5日

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  • Katerina Trkova,
  • Ales Vicha,
  • David Sumerauer,
  • David R. Ghasemi,
  • Vijay Ramaswamy,
  • Lenka Krskova,
  • Miroslav Koblizek,
  • Josef Zamecnik,
  • Martin Kyncl,
  • Barbora Ondrova,
  • Lucie Stolova,
  • Marie Rybkova,
  • Katarina Horcicakova,
  • Vladimir Benes 3rd,
  • Stefan Rutkowski,
  • Michal Zapotocky

摘要

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.