Erdheim-Chester Disease in Adults: 11 Cases from a Canadian Rare Diseases Program
Bibliographic record
Abstract
Erdheim-Chester disease (ECD) is a rare histiocytic neoplasm with highly variable, multisystem manifestations that present significant diagnostic and therapeutic challenges. This retrospective multicenter case series included 11 adult patients diagnosed with biopsy-proven ECD across Canada between January 2015 and June 2024. The cohort comprised six females and five males with a median age of 55 years (range 41-74). PET-CT was used for disease staging and treatment monitoring in nine cases. The most commonly involved sites were bone (n=8), kidney (n=6), and lungs (n=5). BRAF V600E mutations were detected in seven patients. Treatments included vemurafenib, interferon, tocilizumab, cladribine, cobimetinib, and cytarabine. Treatment responses varied, with several patients achieving remission or stable disease, while others had progressive or end-stage disease. This study highlights the clinical heterogeneity of ECD and the value of integrating histopathology, molecular profiling, and imaging to guide management and improve outcomes.
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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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 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) | 0.001 | 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 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".