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Molecular Stratification of Childhood Ependymomas as a Basis for Personalized Diagnostics and Treatment
Margarita Zaytseva1, Ludmila Papusha1, Galina Novichkova1
1Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, 117997 Moscow, Russia.
Abstract:
Ependymomas are among the most enigmatic tumors of the central nervous system, posing enormous challenges for pathologists and clinicians. Despite the efforts made, the treatment options are still limited to surgical resection and radiation therapy, while none of conventional chemotherapies is beneficial. While being histologically similar, ependymomas show considerable clinical and molecular diversity. Their histopathological evaluation alone is not sufficient for reliable diagnostics, prognosis, and choice of treatment strategy. The importance of integrated diagnosis for ependymomas is underscored in the recommendations of Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy. These updated recommendations were adopted and implemented by WHO experts. This minireview highlights recent advances in comprehensive molecular-genetic characterization of ependymomas. Strong emphasis is made on the use of molecular approaches for verification and specification of histological diagnoses, as well as identification of prognostic markers for ependymomas in children.
Insights
Molecular insights are crucial for diagnosing ependymomas, a type of central nervous system tumor. Advanced genetic analysis aids in accurate diagnosis and identifying prognostic markers, especially in pediatric cases.
Area of Science:
- Neuro-oncology
- Molecular Pathology
- Genetics
Background:
- Ependymomas are challenging central nervous system tumors with limited treatment options.
- Histopathological evaluation alone is insufficient due to significant clinical and molecular diversity.
- Integrated diagnosis is essential for accurate prognosis and treatment strategies.
Purpose of the Study:
- To review recent advancements in the molecular-genetic characterization of ependymomas.
- To emphasize the role of molecular approaches in refining diagnoses and identifying prognostic markers.
- To highlight the importance of integrated diagnostics for pediatric ependymomas.
Main Methods:
- Review of current literature on molecular-genetic profiling of ependymomas.
- Analysis of updated diagnostic recommendations from expert consortia (e.g., WHO).
- Focus on molecular markers for improved classification and prognosis.
Main Results:
- Molecular profiling reveals significant diversity within ependymomas, impacting clinical behavior.
- Specific molecular alterations can serve as reliable diagnostic and prognostic indicators.
- Integrated diagnostic approaches improve the accuracy of ependymoma classification.
Conclusions:
- Comprehensive molecular-genetic characterization is vital for ependymoma diagnosis and management.
- Molecular markers offer improved prognostic value over histology alone, particularly in children.
- Adoption of integrated diagnostic strategies aligns with international expert recommendations.
