The K27M Mutation in Histone H3 Is Present in Supratentorial Midline Diffuse Gliomas in Young Adult Patients (S34.003)
Bibliographic record
Abstract
Objective: We examined whether the K27M mutation in H3 is present in diffuse gliomas presenting in adults, almost all of which are supratentorial. Background: The vast majority of diffuse intrinsic pontine gliomas in children carry a specific point mutation (K27M) in histone H3, which can be located in either of two genes coding for this protein, H3F3A (H3.3) or HIST1H3B/C/I (H3.1). This mutation epigenetically alters gene expression. Methods: H3K27M status was determined in 22 consecutive diffuse gliomas in patients under the age of 40 treated at St.Michael’s Hospital, an adult hospital in the University of Toronto system. Ultra-sensitive digital droplet PCR, a method capable of highly sensitive and specific mutation detection affecting either H3.3 or H3.1, was performed on sample DNA. Results: The gliomas of five patients showed the K27M mutation with an allele frequency ranging from 26[percnt] to 44[percnt]. The patient’s age ranged from 17 to 34 years. Three were male and two female. Three of the tumors where located in the thalamus, one in the medulla, and one was intraventricular. One tumor was considered WHO grade II, two III, and two IV. Of 17 patients with gliomas lacking the K27M mutation only one tumor was located in the thalamus, one in the hypothalamus, one in the cerebellum, one periventricular, and all the others where lobar hemispheric. Patients’ age ranged from 19 to 39 years, and WHO grades were 1 II, 9 III, 7 IV.Correlation with patient outcome is ongoing. Conclusions: Young adult patients with supratentorial gliomas located in the midline, often in the thalamus, most commonly carry they K27M mutation in histone H3. This mutation is not found in tumors located in the cerebral lobes. Identification of this subgroup of patients is critical for the development of appropriate therapies.
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| 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) | 0.001 | 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 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".