Myeloid neoplasm with <scp>PDGFRB</scp> rearrangement, presenting as systemic mastocytosis‐chronic eosinophilic leukemia
Bibliographic record
Abstract
A 67-year-old male with history of epigastric pain, significant pruritus, and rash (on arms and legs bilaterally, back, and buttocks) is described. Other pertinent symptoms reported by the patient included fatigue, abdominal distension, infrequent night sweats and 25 lb. weight loss. He presented with anemia (hemoglobin at 100 g/L, MCV is at 97), neutrophilia (10.2 × 109/L), eosinophilia (3.1 × 109/L), basophilia (11.2 × 109/L), and massive splenomegaly (23 cm). Testing for BCR-ABL and JAK2 was negative. On this backdrop, a bone marrow aspiration and biopsy was performed. Circulating normal and atypical mast cells were seen on peripheral blood (Image, panel A, ×50 magnification). Bone marrow aspiration was a dry tap. Trephine biopsy revealed a hypercellular bone marrow with marked eosinophilic and megakaryocytic hyperplasia and a large mast cell infiltrate (70% of cellularity; Image, Hematoxylin and Eosin stain, panel B, ×10, and panel C, ×50 magnification). Mast cells expressed tryptase, CD117 and CD25 but not CD2 (Image, panels D–G, ×4 with inset ×20 magnification, respectively). Reticulin and trichrome stains showed significant fibrosis with deposition of collagen (MF 3/3, Image, panels H and I, respectively, ×4 with inset ×20 magnification). Further testing revealed a PDGFRB (5q32) rearrangement and ruled out a KIT D816V mutation. Seemingly, with circulating mast cells, diagnosis of mast cell leukemia was entertained. However, this diagnosis requires >10% circulating mast cells in the peripheral blood or >20% atypical mast cells in nonspicular parts of an aspirate. Flow cytometry of the blood (albeit on a 6-day-old sample) showed 0.4% circulating mast cells. Accordingly, the diagnosis of PDGRFB rearranged chronic eosinophilic leukemia with a CD25+ mast cell infiltrate (meeting the criteria for systemic mastocytosis) was favored. This patient was initially managed with prednisone (20 mg daily) showing a mild improvement of his rash and pruritus. He was subsequently treated with imatinib mesylate (200 mg daily) at which time a prednisone taper was commenced. Biweekly monitoring is instituted to track his hematologic parameters. A variety of PDGFRB fusion proteins are associated with myeloid/lymphoid neoplasms with eosinophilia. The most common presentation of this myeloid neoplasm includes features of chronic myelomonocytic leukemia with eosinophilia. Other less frequent presentations include features similar to atypical chronic myeloid leukemia and chronic eosinophilic leukemia not otherwise specified among others. Association of this rearrangement with systemic mastocytosis is quite rare. The author declares that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported. Data sharing not applicable - no new data generated.
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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 | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| 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".