Congenital melanocytic naevi initiated by <i>BRAF</i> fusion oncogene with firmness, pruritus and desmoplastic stroma
Bibliographic record
Abstract
BACKGROUND: Large and giant congenital melanocytic naevi (CMN) present a risk for developing melanoma or neurocutaneous melanosis. Most CMN are caused by NRAS or, less commonly, BRAF mutations. OBJECTIVES: To present a series of patients with large-to-giant CMN with BRAF fusion genes as driver alterations and describe their unique clinical presentation. METHODS: We retrospectively identified five patients, from three academic institutions, with giant CMN harbouring BRAF fusion genes. We analysed tumour DNA using capture-based next-generation sequencing. RESULTS: Four of five patients with giant CMN harbouring a BRAF fusion gene exhibited thousands of satellite naevi, many with significant pruritus, nodularity and firmness. One patient developed neurocutaneous melanosis. Histopathology showed marked stromal desmoplasia, akin to the changes observed in acquired melanocytic naevi with BRAF fusion genes. Notably, one patient responded to the MEK inhibitor trametinib, demonstrating the potential therapeutic advantage of genetic characterization of these lesions. CONCLUSIONS: CMN with BRAF fusion genes appear to have unique clinical features and may be associated with numerous satellite lesions. Marked desmoplasia is a histopathological feature that can point to an underlying BRAF fusion gene.
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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 | 0.001 |
| 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 | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 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".