Molecular Classification and Treatment of Ependymal Tumors

The integration of molecular profiling into the diagnosis of ependymal tumours has transformed clinical practice. Historically classified by histopathology alone, ependymomas are now divided into distinct molecular subgroups based on epigenomic and genetic features. In the supratentorial compartment, tumours harbouring C11orf95–RELA or YAP1 fusions represent separate entities with divergent outcomes, while novel fusion events such as PLAGL1 rearrangements are emerging. Posterior fossa ependymomas are stratified into PFA and PFB subgroups by DNA methylation signatures, with PFA associated with poorer prognosis. Spinal ependymomas include a recently described aggressive MYCN-amplified form alongside conventional subtypes. These molecular categories inform prognosis more accurately than traditional grading and guide risk-adapted therapy. Treatment remains centred on maximal surgical resection followed by conformal radiotherapy for incompletely resected or high-risk tumours. Chemotherapy has limited efficacy as a primary modality, and proton therapy is gaining traction to mitigate long-term sequelae, particularly in paediatric patients. Emerging strategies target dysregulated pathways identified through molecular analysis, including inhibitors of NF-κB signalling in RELA-fusion tumours and tailored approaches for fusion-driven subsets. The shift towards precision medicine holds promise for improved survival and reduced treatment-related morbidity.

Research from Nature Portfolio

No recent Nature Portfolio content available.

Molecular Classification and Treatment of Ependymal Tumors publication trend

The graph below shows the total number of articles in molecular classification and treatment of ependymal tumors across all publications each year (not limited to Nature Index journals).

Technical terms

DNA methylation profiling: Genome-wide assessment of methyl groups on DNA to classify tumours by epigenetic patterns.

Fusion gene: Hybrid gene formed by chromosomal rearrangement, often driving oncogenesis in specific tumour subtypes.

Gross total resection (GTR): Surgical removal of all visible tumour tissue, associated with improved outcomes in ependymoma.

Progression-free survival (PFS): Duration during which a patient’s disease does not worsen following initial treatment.

Fluorescence in situ hybridisation (FISH): Cytogenetic technique using fluorescent probes to detect specific DNA sequences or gene rearrangements.

References

1. Molecular characteristics and improved survival prediction in a cohort of 2023 ependymomas. Acta Neuropathologica (2024).
2. CNS tumors with PLAGL1-fusion: beyond ZFTA and YAP1 in the genetic spectrum of supratentorial ependymomas. Acta Neuropathologica Communications (2024).
3. The current consensus on the clinical management of intracranial ependymoma and its distinct molecular variants. Acta Neuropathologica (2016).
4. MYCN amplification drives an aggressive form of spinal ependymoma. Acta Neuropathologica (2019).
5. Ependymoma: Evaluation and Management Updates. Current Oncology Reports (2022).