Medulloblastoma

In a retrospective molecular analysis of 23 pediatric medulloblastoma samples, Motaz Fadul et al. from – King Abdulaziz University, Jeddah – King Faisal Specialist Hospital and Research Center, Jeddah – Umm Al-Qura University, Makkah – King Saud University, Riyadh – King Abdulaziz Medical City, Jeddah – King Fahad General Hospital, Jeddah Published in: Folia Biologica (Praha), 2025;71(2):73-78

This study sought to:

• Determine the presence of hotspot mutations in IDH1 (R132) and IDH2 (R172)
• Assess correlations with β-catenin expression
• Analyze clinical outcomes, including progression-free survival (PFS)

Findings:

• ❌ No IDH1 or IDH2 mutations were detected in any of the 23 tumor samples.
• 🧬 β-Catenin expression showed no significant correlation with PFS.
• 📉 Median PFS was 383 days, suggesting modest clinical outcomes.

These findings reinforce the understanding that IDH mutations, prevalent in adult gliomas, are not typical of paediatric medulloblastomas, possibly due to divergent tumorigenic pathways and distinct cellular origins ²⁾

This study contributes marginally to the existing molecular profiling literature on paediatric medulloblastoma:

• ✅ Reaffirms known absence of IDH mutations
• ❗ Sample size (n=23) limits statistical power
• ❗ Overreliance on β-catenin expression, without subgroup stratification (e.g. WNT/SHH)
• ❗ Methodology (PCR + Sanger sequencing) lacks genomic depth in the era of next-generation sequencing
• ❌ No novel biomarkers or clinical correlates were identified

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