S2994 Diagnosing Hamartomatous Polyposis in an Adult: A Case Report
Bibliographic record
Abstract
INTRODUCTION: The hamartomatous polyposis syndromes are a rare group of inherited autosomal dominant syndromes with malignant potential. These include Juvenile Polyposis Syndrome, Peutz-Jeghers Syndrome, Bannayan-Riley-Ruvalcaba Syndrome, Cowden Syndrome, Cronkhite-Canada Syndrome, and Hereditary Mixed Polyposis Syndrome. Though typically discovered in the pediatric population, there are some cases of diagnosis occurring in adulthood. Here, we present one such case. CASE DESCRIPTION/METHODS: A 67 year old male presented to the emergency department with weakness, decreased appetite, intermittent reflux, constipation, and unintentional 10-pound weight loss. Initial evaluation was significant for iron deficiency anemia. His history includes H. Pylori negative peptic ulcer disease. Colonoscopy in June 2018 revealed an 8 mm hyperplastic polyp in the mid transverse colon as well as inflammation and redundant tissue in multiple regions of the gastrointestinal tract. He denies toxic habits and has no personal or family history of colon cancer. He received one unit of packed red blood cells and underwent small bowel enteroscopy with colonoscopy, revealing a 4 cm mass in the gastric cardia and an area of polypoid mucosa on greater curvature of stomach measuring 5 cm. In light of his stable medical condition, he was discharged home with close follow up. Pathology of the samples from the angularity of the stomach, gastric cardia, gastric body, gastroesophageal junction, descending colon, sigmoid colon, and rectum were noted to be polypoid and hyperplastic mucosa, favoring hamartomatous polyposis. DISCUSSION: Collectively, hamartomatous polyposis syndromes are responsible for 1% of colorectal cancers. The risk of progression to malignancy varies from 18 to 68% depending on the syndrome and its severity. Despite the benign appearance of these lesions, surveillance should be prioritized, as there is an unclear mechanism of progression to malignancy. When considering that the morbidity and mortality from malignant and non-malignant complications are significant, the detection of a genetic linkage and recognitions of distinct, extra-intestinal associations should be a signal to the clinician to pursue early detection. At the time of this publication, the patient requires additional evaluation for diagnosis in order to anticipate and treat future complications associated with these syndromes.Figure 1.: Polyps seen in the gastric cardia.Figure 2.: Polyp seen in the descending colon.Figure 3.: Polyp seen in the sigmoid colon.
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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 | 0.003 |
| Meta-epidemiology (narrow) | 0.003 | 0.002 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.005 | 0.003 |
| Science and technology studies | 0.003 | 0.002 |
| Scholarly communication | 0.002 | 0.003 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.006 | 0.003 |
| Insufficient payload (model declined to judge) | 0.004 | 0.002 |
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".