A Case of Gastric Juvenile Polyposis Successfully Diagnosed by Identification of a Germline SMAD4 Mutation
Bibliographic record
Abstract
症例は42歳の女性で，胃限局型ポリポーシスに対し，前医でCronkhite-Canada症候群を疑われ，ステロイド治療が行われたが奏効せず，内科的コントロール不良の貧血と低蛋白血症を主訴に当院紹介受診した．腹腔鏡補助下胃全摘出術を施行し，症状は改善した．標本肉眼所見にて胃に限局して密生する多発ポリープを認め，病理組織学的検査では過誤腫性ポリープの形態を呈していた．大腸に特異的な病変が存在せず，臨床病理像だけからは鑑別診断に難渋したが，末梢血DNAの遺伝子診断を施行したところ，若年性ポリポーシス（以下，JPsと略記）関連遺伝子であるSMAD4遺伝子変異を認め，胃限局型JPsの最終診断に至った．さらに，本症例は，世界的にも過去に報告のないnovel mutationを有していた．本邦ではJPsにおけるSMAD4遺伝子変異の報告はいまだ少ないが，同遺伝子の変異検索は診断確定に有用であるため，胃限局型ポリポーシスの鑑別診断に際し念頭におく必要がある．
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| 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) | 0.000 | 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 teacher head, 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".