PF490 PRESENCE OF BRAFV600E MUTATION IN CHILDHOOD LCH CORRELATES WITH MULTISYSTEM DISEASE AND A POOR SURVIVAL
Bibliographic record
Abstract
Background: Reports in LCH have observed BRAFV600E mutation in 35–40% cases of LCH and have demonstrated its relation with poor outcome. Aims: The aim of the study was to detect the presence of BRAFV600E mutation in children with LCH and to correlate with survival. Methods: Retrospective, Single centre, Case‐control study. Biopsy or FNAC diagnosed and immunochemistry confirmed (CD1a and S‐100 +ve) cases of LCH over 5‐years were retrieved. RQ‐PCR as well as Sanger sequencing for BRAFV600E mutation was performed. Ten cases of non‐LCH histiocytic proliferations were run as controls. Results: Thirty‐five LCH cases enrolled. 4 cases were excluded due to poor quality of DNA and 2 due to lack of follow up. The mean age was 2.5 years (0.4–11 yrs). Unisystem involvement was noted in 13/28 (46.5%) cases and multisystem in 15/28 (53.5%), including 13 with risk organ involvement. Of the 28 samples run on RQ‐PCR, BRAFV600E mutation was identified in 6/28 (21%) cases. The copy number threshold (Ct) values of positive cases ranged from 25.8–34.1 with a mean of 30.2. Sanger sequencing in all 28 samples confirmed positivity in 5/6 cases. One case did not yield reportable reads. There were no false negatives noted. Ten events (36%) were recorded, including 4 (14%) disease relapse, 3 (11%) deaths and 3 (11%) with progressive disease. All patients positive for mutation had multisystem involvement (100%) (p 0.0348), an EFS at 3‐years of 17% vs. 72% in negative group (p 0.0110) and an OS of 32.5% vs. 82% (p 0.0330). The lower BRAFV600E positivity than west could be likely due to archival samples and degraded DNA. Summary/Conclusion: The frequency for BRAFV600E positivity was low (21%), however, all positive cases had multisystem involvement and a poor 3‐year survival, confirming BRAFV600E to be a poor prognostic marker. image
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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 | 0.001 |
| 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) | 0.003 | 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".