Germline Platelet-derived growth factor receptor beta p.R987W pathogenic variant in 2 children with brain tumors
Bibliographic record
Abstract
Platelet-Derived Growth Factor Receptor Beta (PDGFRB) is critically implicated in development. Constitutional pathogenic variants (CPVs) in the gene encoding this receptor result in several inherited syndromes, including primary familial brain calcifications (PFBC) or infantile myofibromatosis, but have not been associated with brain tumors. Here, we describe a 9-year-old male with a DCTN1-ALK fused inflammatory myofibroblastic tumor of the brain and an 11-year-old female with a TRIM24-MET fused occipital glioneural tumor. Both probands carry the same constitutive PDGFRB c.2959C>T (p. Arg987Trp) CPV, raising the possibility that this variant, previously described in PFBC, may also promote tumor formation including in the brain.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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 teacher head, 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".