Pediatric lacrimal sac non-keratinizing squamous cell carcinoma with DEK-AFF2 gene fusion: clinical and histopathological case report
Bibliographic record
Abstract
Inverted papillomas (IP) in children are extremely rare, benign epithelial growths known to recur. DEF-AFF2 squamous cell carcinoma (SCC), a newly identified, aggressive, and metastatic non-keratinizing SCC, can mimic IP. A 15-year-old male presented with recurrent episodes of left dacryocystitis and epiphora. His exam revealed left nasolacrimal duct obstruction, and an endonasal dacryocystorhinostomy was planned. Intraoperatively, there was a sudden prolapse of soft tissue after incising into the left lacrimal sac. Lesion biopsy initially revealed pathologic features consistent with inverted papilloma; however, RNA sequencing revealed a DEF-AFF2 fusion reclassifying it to SCC. Otolaryngology performed staged debulking followed by proton radiotherapy. There was no evidence of recurrence for 18 months. DEF-AFF2 SCC is a distinct, locally aggressive tumor with rare involvement of the lacrimal apparatus. Combined surgical and radiation therapy lead to adequate response. Accurate diagnosis requires a multidisciplinary approach due to its challenging and rare presentation, particularly in an atypical age group.
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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) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.002 | 0.002 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.004 | 0.002 |
| Insufficient payload (model declined to judge) | 0.002 | 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".