Myeloid neoplasm with <scp>PDGFRB</scp> rearrangement, presenting as systemic mastocytosis‐chronic eosinophilic leukemia
Notice bibliographique
Résumé
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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Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,001 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,001 | 0,000 |
| Bibliométrie | 0,000 | 0,001 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,001 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule tête enseignante, pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».