Unraveling a Rare Pediatric Brain Tumor: High-Grade Glioma with MYCN Deletion and Mismatch Repair Deficiency

Introduction:
Pediatric high-grade gliomas (pHGGs) remain one of the most aggressive brain tumors in children, with significant molecular diversity shaping their prognosis and treatment. A recent study has identified a unique case involving MYCN deletion and constitutional mismatch repair deficiency in a 19-year-old patient. Understanding these molecular alterations could pave the way for improved diagnostic and therapeutic strategies. Visit https://www.clinmedcasereportsjournal.org/acr for more groundbreaking research in this field.

Molecular Insights into Pediatric High-Grade Gliomas

• Pediatric-type high-grade gliomas (pHGGs) are characterized by mutations in histone H3 (H3-wildtype) or IDH genes (IDH-wildtype).
• MYCN alterations are commonly linked with tumor aggressiveness, often observed as gene amplification. However, this study presents a rare case of MYCN deletion, which has not been previously reported.
• Mismatch repair (MMR) deficiency, often associated with hereditary cancer syndromes like Lynch syndrome, can lead to increased tumor mutational burden and aggressive progression.

Case Presentation
A 19-year-old female patient exhibited persistent headaches, dizziness, and visual disturbances over several months. MRI scans revealed a large, multinodular tumor (84×45×70 mm) in the left cerebral hemisphere, leading to surgical resection under awake neurolinguistic monitoring. Histopathological analysis confirmed a highly malignant glioma with mismatch repair deficiency and MYCN deletion. Read the full study at https://doi.org/10.29328/journal.acr.1001079.

Broader Implications in Pediatric Oncology
The American Society of Clinical Oncology (ASCO) emphasizes the importance of integrating molecular diagnostics into pediatric cancer treatment to refine targeted therapies and enhance patient outcomes. Understanding rare genomic alterations like MYCN deletion can help develop personalized interventions and improve prognosis for affected patients.

Advancements in Treatment Approaches

• Current standard treatments include surgical resection, radiation therapy, and chemotherapy with temozolomide.
• The patient in this case underwent 28 chemotherapy cycles with temozolomide alongside 60 Gray radiation therapy, demonstrating stable disease control.
• Future therapeutic avenues may involve immunotherapy, gene editing, or personalized molecular-targeted drugs. A detailed analysis can be found in our main journal article.

Conclusion & Call-to-Action
The discovery of MYCN deletion in pediatric gliomas underscores the need for further research into its role in tumor progression and treatment resistance. Continued molecular profiling and clinical studies are crucial for advancing pediatric neuro-oncology.

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