P087: Integrated analysis of cell-free DNA for the detection of malignant peripheral nerve sheath tumors in patients with neurofibromatosis type 1
Bibliographic record
Abstract
Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder caused by an inherited or de novo germline pathogenic variant in the tumor suppressor gene NF1 which affects ∼1:3000 people. One hallmark phenotype of patients with NF1 is the development of plexiform neurofibromas (pNF). While some neurofibromas remain benign, roughly 8-13% will undergo malignant transformation into an aggressive sarcoma called malignant peripheral nerve sheath tumor (MPNST). Detection and monitoring of these tumors can be difficult, especially if located internally, which result in later time of diagnosis and a low 5-year survival rate of ∼20-50%.
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.003 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| 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".