Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD)
Bibliographic record
Abstract
Constitutional mismatch repair deficiency (CMMRD) is a hereditary cancer syndrome, characterised by biallelic germline pathogenic variants in one of the four DNA mismatch repair (MMR) genes, mutS homologue 2 (MSH2), mutS homologue 6 (MSH6), mutL homologue 1 (MLH1), or postmeiotic segregation increased 2 (PMS2) [1].First described in 1999 [2, 3] and initially considered rare, there have been increasing reports of this syndrome over the past decade, and it is now considered as being underdiagnosed, particularly with higher prevalence among endogamous populations [4] and in developing countries [5].Individuals with CMMRD are at high risk of developing multiple malignancies across the central nervous system (CNS), haematological, and gastrointestinal systems, often with cutaneous Mayen Briggs and Anirban Das contributed equally.
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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) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.002 | 0.002 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.003 | 0.003 |
| 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".