Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas
Bibliographic record
Abstract
Encephalocraniocutaneous lipomatosis (ECCL;[MIM:613001]) is a rare sporadic RASopathy due to one of two mutually exclusive fibroblast growth factor receptor 1 (FGFR1) mutations p.N546K or p.K656E. These activating hotspot mutations are identified in affected tissues, but not in the peripheral blood of ECCL patients, and are likely the result of post-zygotic constitutional mosaicism promoting locally constitutive activation of the RAS-MAPK pathway [ 1 ]. The same FGFR1 mutations occur in subgroups of sporadic low-grade gliomas (LGG) [ 7 , 10 , 12 ] indicating probable intersection between ECCL and tumorigenesis, possibility further substantiated by reports of brain tumors in nine ECCL cases with wide-ranging histopathological subtypes [ 1 , 2 , 3 , 5 , 6 , 8 , 9 , 13 ].
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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) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.004 | 0.002 |
| 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".