Neonatal Gardner Fibroma: A Sentinel Presentation of Severe Familial Adenomatous Polyposis
Bibliographic record
Abstract
Familial adenomatous polyposis (FAP) is a rare cause of colorectal cancer and rarely presents in early childhood. Various extracolonic manifestations, however, may be present before the development of overt polyposis. One of the rarest manifestations is the Gardner fibroma (GAF), which has particular histologic features. Here we report the case of a child who presented in the neonatal period with a paraspinal mass. Although the initial diagnosis was unclear, biopsy of a second lesion at 32 months of age, and a review of the first lesion, resulted in the diagnosis of GAF. After rectal bleeding at 47 months, colonoscopy revealed 75 to 100 colonic polyps. Adenomas were identified in multiple biopsies throughout the colon and from several polyps located in the duodenum. Polyps were visualized in the jejunum by wireless-capsule endoscopy. A total proctocolectomy was performed, and no malignant transformation was observed in the colon on pathologic inspection. A truncating mutation in APC (c.4479_4480delGG p.Glu1494LysfsX19) was identified in the child. Her parents and sister do not carry this mutation in lymphocyte DNA. To our knowledge, this is the first report of neonatal GAF as the presenting feature of a molecularly confirmed case of sporadic FAP and the earliest colonic and small bowel involvement reported of FAP. It illustrates the need to exclude FAP in a child who harbors fibromas suggestive of GAF, even in the absence of supportive evidence of FAP in the patient or relatives.
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| 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".