Colorectal cancer in a 9-year-old due to combined <i>EPCAM</i> and <i>MSH2</i> germline mutations: case report of a unique genotype and immunophenotype
Bibliographic record
Abstract
Lynch syndrome (LS) typically arises in the setting of a heterozygous germline mutation in one of the DNA mismatch repair (MMR) genes ( MLH1 , MSH2 , MSH6 , PMS2 ). Rarely, LS can also arise due to germline deletion of the 3′ region of the epithelial cell adhesion molecule ( EPCAM ) gene, an event that results in silencing of the in cis downstream MSH2 gene in epithelial cells.1 ,2 As with other causes of LS, EPCAM mutations have been associated with increased risk of colorectal and endometrial carcinomas.3 Biallelic MMR mutations (ie, the presence of two defective germline copies of the same MMR gene) result in a different cancer syndrome. Malignancy may occur as early as the first decade, and the most common neoplasms are lymphomas, leukaemias and tumours of the central nervous system (CNS).4 Gastrointestinal carcinomas are also common, and usually arise in the colorectum, with a minority occurring in the small bowel.4 ,5 In one review of patients with gastrointestinal carcinoma with biallelic MMR mutations, the mean age of first cancer diagnosis was 16.4 years (range: 5–28 years), with 55% (16 of 29) of cases presenting in the paediatric setting.4 Patients may also have skin lesions typically associated with neurofibromatosis type 1, such as cafe-au-lait macules and neurofibromas. …
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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 | 0.002 | 0.004 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.002 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.003 |
| 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; both teacher heads agree on what is shown here.
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".