Primary diffuse large B-cell lymphoma associated with clonally-related monoclonal B lymphocytosis indicates a common precursor cell
Bibliographic record
Abstract
Primary cold agglutinin disease (CAD), a rare hemolytic anemia caused by monoclonal IgM anti-I autoantibodies, was previously demonstrated to be associated with a small B-cell lymphoproliferative disorder of the bone marrow.This B-cell lymphoproliferative disorder has histopathological characteristics different from lymphoplasmacytic lymphoma and lacks the MYD88 L265P mutation.Using flow cytometry-assisted cell sorting of bone marrow, exome sequencing and targeted sequencing of clonal B cells and control T cells, we searched for recurring mutations in CAD.A total of 16 well-characterized patients were analysed.Recurrent mutations of KMT2D (11/16, 69%) and CARD11 (5/16, 31%) were found.The mutations were concurrent in four patients.These findings confirm that lymphoproliferative disease associated with primary CAD is a unique small B-cell lymphoproliferative disease of the bone marrow.The identification of the mutations may be useful to properly diagnose the disease and discern it from other small B-cell lymphomas affecting the bone marrow.Whether targeted treatment for CAD, in view of the high frequency of KMT2D mutation is an option, remains to be demonstrated.
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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) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.003 | 0.002 |
| Insufficient payload (model declined to judge) | 0.003 | 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".