Evaluation of rapid whole-body magnetic resonance as screening strategy for early cancer detection in 57 Brazilian Li-Fraumeni syndrome patients.
Bibliographic record
Abstract
1534 Background: Li-Fraumeni Syndrome (LFS) is a rare autosomal dominant syndrome associated with germline mutations in TP53 gene. Carriers have a high risk for developing multiple early onset cancers, most commonly breast cancer, sarcomas, brain and adrenocortical carcinomas. Screening strategies for early diagnosis in carriers constitute a major challenge due to the diverse spectrum and ages of onset of tumors. Rapid whole body MRI (RWB–MRI) has been proposed as a screening strategy. In Brazil, there is a high prevalence of a founder mutation (p.R337H TP53) present in 0.3% of the South/Southeastern Brazilian population. Due to genetic modifiers, tumors occur at a later age in p.R337H carriers. Methods: The aim of this study is to evaluate the efficacy of RWB–MRI as a screening strategy in p.R337H TP53 carriers and in classical LFS mutation carriers. A total of 84 RWB–MRI were performed in 57 TP53 germline mutation carriers (49 p.R337H TP53), including 27 patients who performed a second exam 12 months after the first RWB–MRI. Results: Two malignant lesions were detected by RWB–MRI: (1) in a 19–year old p.R337H female carrier RWB-MRI demonstrated bilateral renal cortical alterations, confirmed with abdominal MRI which showed an enhancing solid lesion in the right kidney. The lesion was surgically removed and pathological findings confirmed a papillary renal cell carcinoma; (2) in a 30 year old p.R337H female carrier, RWB–MRI detected a solid right breast nodule. Breast MRI detected two solid lesions. Biopsy of each lesion confirmed diagnoses of a ductal carcinoma in situ and benign phyllodes tumor, respectively. Incidental findings were detected in 26/57 patients and further imaging modalities were performed in 9/26 cases which ruled out malignancies and no unnecessary biopsies were performed. No malignant lesions were detected in 8 classical LFS patients. Conclusions: Preliminary results from this study demonstrate the feasibility and effectiveness of RWB–MRI in detecting malignant lesions among 49 p.R337H TP53 mutation carriers.
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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 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 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) | 0.001 | 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 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".