Overview
Ependymoma is a type of brain tumor arising from ependymal cells lining the ventricles and central canal of the spinal cord, with distinct clinical and molecular subtypes impacting prognosis and management 12.Diagnosis
Imaging: MRI is essential for tumor localization, extent, and grading 1.
Biopsy and Histology: Definitive diagnosis through surgical resection and histopathological examination 1.
Molecular Analysis: DNA copy number analysis, gene-fusion detection, and methylation classification can stratify subtypes (e.g., PFA, PFB) 1.
Grading: Based on histological features, distinguishing between low-grade (Grade II) and high-grade ependymomas 1.Management
Surgical Resection: Complete resection improves progression-free survival (PFS) and overall survival (OS) 1.
Radiotherapy: Recommended for incompletely resected tumors, particularly in pediatric patients 1.
Chemotherapy: Specific drug classes and doses not detailed in abstracts; tailored based on molecular subtypes and clinical response 12.
Molecular Subtypes: Consider molecular profiling (e.g., RELA, 1q gain) for guiding treatment decisions 12.Special Populations
Pediatrics: Complete surgical resection and female sex are associated with better OS 1.
Recurrent Disease: Rapid autopsy procedures can facilitate genomic analysis post-mortem, aiding in understanding recurrence mechanisms 3.Key Recommendations
Perform complete surgical resection whenever feasible to enhance PFS and OS (Evidence: Strong 1).
Incorporate molecular profiling (e.g., DNA methylation, gene fusions) to guide treatment stratification (Evidence: Moderate 12).
Consider radiotherapy for incompletely resected tumors, especially in pediatric cases, to improve survival outcomes (Evidence: Moderate 1).References
1 Massimino M, Barretta F, Modena P, Witt H, Minasi S, Pfister SM et al.. Second series by the Italian Association of Pediatric Hematology and Oncology of children and adolescents with intracranial ependymoma: an integrated molecular and clinical characterization with a long-term follow-up. Neuro-oncology 2021. link
2 . Ependymoma Superenhancer Profiling Reveals Potential Therapeutic Targets. Cancer discovery 2018. link
3 Lange KR, Fischer C, Rajappa P, Connors S, Pisapia D, Greenfield JP et al.. Rapid autopsy of a patient with recurrent anaplastic ependymoma. Palliative & supportive care 2018. link
4 Helwig EB, Stern JB. Subcutaneous sacrococcygeal myxopapillary ependymoma. A clinicopathologic study of 32 cases. American journal of clinical pathology 1984. link