MG-141 A further report of paediatric cancer and cleidocranial dysplasia raises the possibility of a causative association of weak effect
Bibliographic record
Abstract
<h3>Background</h3> RUNX2 can act as both oncogene and tumour suppressor. In cleidocranial dysplasia (CCD), RUNX2 mutations cause haploinsufficiency of the protein. We encountered a young man with CCD who developed lymphoma at age 16 years and melanoma in his early 20s. Sequencing of RUNX2 identified a novel, damaging and conserved missense mutation (p. Arg186Ile) not present in either parent. <h3>Objectives</h3> We sought evidence to support or refute a greater than expected cumulative incidence of paediatric cancer in CCD. <h3>Design/method</h3> We reviewed English language descriptions of individuals with CCD to identify the proportion with paediatric cancer. We compared this frequency to the expected background frequency of cancer in the paediatric age range. We also performed a sensitivity analysis to determine a reporting bias threshold at which a perceived association would be spurious. <h3>Results</h3> Six of 1242 individuals with CCD had paediatric cancer. One would expect only 1 in 6250 individuals to have cancer prior to age 20 (SEER CDC data). The estimated relative risk is 30-fold based on this data. If, however, a co-occurrence of CCD and paediatric cancer is 15 times more likely to be reported in the literature than an occurence without cancer, then the observation of increased relative risk is spurious. <h3>Conclusions</h3> Our data suggests a role for RUNX2 in some paediatric cancers and a possible increased relative risk, but low absolute risk, for cancer in CCD. A CCD registry with prospective data collection may be the best means to determine actual risk of paediatric cancer in CCD.
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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 | 0.003 |
| 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".