ETMR-12. Rare Brain Tumor Consortia (RBTC) case series: Insights into primary brainstem ETMRs, a rare and aggressive tumor of childhood
Bibliographic record
Abstract
Abstract Brainstem tumors account for 10-20% of all pediatric brain tumors, amongst these gliomas are the most common brainstem tumors. Our study examines the occurrence of non-gliomatous brainstem tumors, specifically embryonal tumors with multilayered rosettes (ETMRs). ETMRs are newly described, rare aggressive tumors of infancy, characterized by C19MC alterations. A recent largescale study by the RBTC shows ETMRs can arise anywhere in the brain, most frequently in the cerebrum (60%), followed by cerebellum (18%) and other midline structures (6%). Amongst the 165 molecularly confirmed ETMRs submitted to the RBTC, 21 cases presented with brainstem primaries (BS-ETMRs). Many of these radiologically mimic diffuse intrinsic pontine gliomas with typical and atypical features with dorsally exophytic growth. Median age at diagnosis was 27 months (range 16-75months), with no observed gender predilection. Nearly all patients presented with neurological symptoms, including cranial nerve palsies, long tract signs, and gait disturbance. Most cases were localized at diagnosis, with only one presenting with disseminated disease. Of 21 patients, 11(52%) underwent partial resection while 7(33%) had a biopsy. Complete tumor resection was achieved in only one case. Histopathological diagnosis varied between ETANTR, ETMR and PNET. Molecular analysis showed majority of cases were C19MC-altered. Two patients received upfront palliative care, while 19 were treated with curative intent, using heterogenous combination of chemotherapy with and without radiotherapy. Outcomes were poor, with a median progression-free survival of 4 months and overall survival of less than 13 months. All but 4 patients experienced local progression. The only long-term surviving patient (OS > 5years) underwent complete resection, intensified chemotherapy, and radiotherapy. Review of the literature identified seven additional non-duplicate molecularly confirmed cases, none of which are long-term survivors. Primary brainstem ETMRs are rare, highly aggressive disease associated with a poor prognosis. Prompt diagnosis and multimodal therapy with maximal safe surgical resection are essential to improving outcomes.
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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".