RARE-22. MEDULLOBLASTOMA IN A CHILD WITH NEUROFIBROMATOSIS-1: CASE REPORT AND REVIEW
Bibliographic record
Abstract
Neurofibromatosis-1(NF-1) is a relatively common inherited cancer predisposition syndrome and patients with NF-1 are prone to develop benign and malignant tumors of the CNS and peripheral nervous system, in addition to malignant diseases affecting other parts of the body. Medulloblastoma (MBL), the most common malignant brain tumor of childhood, is rarely associated with NF-1. We report a case of Medulloblastoma in a genetically proven case of NF-1.Our patient was diagnosed to have NF-1 in infancy based on clinical / radiological features (Café-au-lait macules, axillary freckling, cutaneous / plexiform neurofibromas and sphenoid wing dysplasia).In the past 2 years prior to presentation she started having intermittent episodes of dizziness and ataxia which gradually worsened and was associated with headache and vomiting. MRI of the brain revealed a midline posterior fossa mass originating from the floor of the fourth ventricle. She underwent a complete surgical resection of the mass and pathology was suggestive of Medulloblastoma. Immunohisto-chemistry for the mismatch repair defect genes (MLH1, MSH2, MSH6 and PMS2) stained positive in both the tumor and adjacent normal brain tissue. Genetic testing revealed mutation in the NF-1 gene. She was treated as per COG ACNS0331 protocol and is currently in remission at 6 months follow up after completion of chemotherapy. A review of the literature identified three case reports of Medulloblastoma in NF-1 patients.
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.005 | 0.004 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.003 |
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".