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Molecular and Pathological Features of Paediatric High-Grade Gliomas
Luis Blasco-Santana1, Isabel Colmenero1
1Pathology Department, Hospital Infantil Universitario del Niño Jesús, Avenida de Menéndez Pelayo, 65, 28009 Madrid, Spain.
Insights
Paediatric high-grade gliomas differ significantly from adult types. Molecular classification, focusing on histone 3, IDH1/2, and RTK fusions, is now crucial for diagnosis and prognosis in children.
Area of Science:
- Pediatric Oncology
- Neuro-oncology
- Molecular Pathology
Background:
- Paediatric high-grade gliomas (HGGs) are common childhood brain tumors.
- Despite morphological similarities to adult HGGs, distinct biological and molecular differences exist.
- Traditional histopathological classification is insufficient for accurate diagnosis and prognosis.
Purpose of the Study:
- To review the current diagnostic categories of paediatric HGGs.
- To highlight the critical role of molecular features in diagnosis and classification.
- To emphasize the shift towards molecular-based diagnostics in paediatric neuro-oncology.
Main Methods:
- Review of current literature and diagnostic guidelines.
- Focus on molecular alterations including histone 3, IDH1/2 mutations, and Receptor Tyrosine Kinase (RTK) fusions.
- Integration of molecular findings with histopathological classification as per WHO guidelines.
Main Results:
- Molecular classification has revolutionized paediatric HGG diagnosis.
- Specific molecular alterations (histone 3, IDH1/2, RTK fusions) are key diagnostic and prognostic markers.
- Current WHO classifications reflect this molecular shift, impacting patient management.
Conclusions:
- Molecular pathology is indispensable for the accurate diagnosis and classification of paediatric HGGs.
- Understanding these molecular features is essential for improving prognostic accuracy and therapeutic strategies.
- The diagnostic paradigm for paediatric HGGs has fundamentally changed due to molecular insights.
Abstract:
Paediatric high-grade gliomas are among the most common malignancies found in children. Despite morphological similarities to their adult counterparts, there are profound biological and molecular differences. Furthermore, and thanks to molecular biology, the diagnostic pathology of paediatric high-grade gliomas has experimented a dramatic shift towards molecular classification, with important prognostic implications, as is appropriately reflected in both the current WHO Classification of Tumours of the Central Nervous System and the WHO Classification of Paediatric Tumours. Emphasis is placed on histone 3, IDH1, and IDH2 alterations, and on Receptor of Tyrosine Kinase fusions. In this review we present the current diagnostic categories from the diagnostic pathology perspective including molecular features.
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