Renal Cell Carcinoma in A Girl With Tuberous Sclerosis Due to a New Mutation
Bibliographic record
Abstract
Tuberous sclerosis complex (TSC) is a neurocutaneous disorder inherited in autosomal dominant manner. It is characterized by multisystem involvement due to the formation of hamartomas in different organs. TSC2 gene mutations are the most common cause of the disease and are associated with more severe neurological symptoms compared to TSC1 gene mutations. However, in our case, we are reporting a rare mutation detected at the flanking splice site of exon 37 in the TSC2 gene in a 2-year-5-month-old girl. She presented to the emergency department at the age of 1 month with generalized abnormal body movements. A review of genetic databases revealed no prior reports of this gene in the literature. Her diagnosis was confirmed by gene panel for TCS. Later, she developed renal cell carcinoma. Such cases are managed by a multidisciplinary team including a pediatrician, a pediatric neurologist, a pediatric cardiologist, a pediatric hematology-oncology specialist, and specialist in pediatric surgery. The overall prognosis of children with TSC is variable and dependent on the severity of symptoms, especially neurologic manifestations.
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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 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.003 | 0.002 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.004 | 0.003 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
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".