Neuroepithelial tumors of the central nervous system with EWSR1::PATZ1 fusion: a case report and literature review
Bibliographic record
Abstract
Neuroepithelial tumors (NEpT) harboring EWSR::PATZ1 fusions remain an enigma. Initially described in sarcomas, these tumors display remarkable histomorphological diversity and unpredictable clinical behavior based on histologic or molecular features, with no established management protocols. To date, this subgroup of neoplasms has not been acknowledged as a sui generis entity by the WHO classification system, and it is currently designated as ‘NEC’/’NOS’. This retrospective case series describes two young adults (32–35 years old) without cancer predisposition or risk factors, diagnosed with EWSR1::PATZ1-fused NEpT. Case 1, a female with seizures, presented a heterogeneous left parietal lobe lesion (4.0 × 3.2 × 3.6 cm), classified as high-grade NEpT with MGMT promoter methylation, a calibrated score of 0.95 (≥ 0.9), and a co-occurring somatic MUTYH mutation. Case 2, a male with chronic headaches and mild right-sided paresthesia, had a left frontotemporal lesion (3.0 × 2.8 × 3.4 cm), initially diagnosed as an extraventricular neurocytoma but later reclassified as a NEpT with low-to-intermediate grade features, without MGMT methylation, and a calibrated score of 0.92. Case 1 received upfront resection, followed by Stupp protocol chemoradiation and temozolomide maintenance, resulting in 14 months of progression-free survival (PFS). Case 2 underwent subtotal resection and adjuvant radiotherapy after an 8-month recurrence, achieving 11 months of PFS to date. Both patients are asymptomatic, off corticosteroids, with the latest imaging revealing no disease progression. Our cases emphasize that EWSR1::PATZ1-fused NEpT displays a unique signature (ventricular localization, glioneuronal differentiation, and a distinct methylation cluster), supporting their inclusion in the WHO classification. Moreover, we present the first documented somatic co-mutation involving MUTYH. At present, despite the theoretical risk of temozolomide resistance due to PATZ1 overexpression, our results suggest that conventional glioma therapies remain the preferred approach.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.008 | 0.007 |
| Science and technology studies | 0.002 | 0.002 |
| Scholarly communication | 0.002 | 0.004 |
| Open science | 0.002 | 0.002 |
| Research integrity | 0.003 | 0.002 |
| Insufficient payload (model declined to judge) | 0.003 | 0.002 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".