Case study: Refractory anemia with excess blasts - fibrosis (RAEB-F). Case 1 (Refractory anemia with excess blasts)

Clinical history

The patient presented with systemic symptoms, leukocytosis with anemia and thrombocytopenia and a history of DVT Aug 2012. Suspected marrow malignancy, either primary or secondary. No apparent hepatosplenomegaly on exam.

CBC & Differential WBC Count * 12.3 [4.0-11.0] giga/L RBC Count * 2.92 [4.20-5.80] tera/L Hemoglobin * 85 [135-170] g/L Hematocrit * 0.25 [0.40-0.50] MCV 86 [82-98] fL RDW * 19.4 [11.0-15.0] % Platelet Count ** 16 [150-400] giga/L Peripheral Smear Review Neutrophils * 9.84 [2.0-8.0] giga/L Eosinophils 0.12 [0.0-0.7] giga/L Lymphocytes * 0.25 [1.2-3.5] giga/L Monocytes 0.37 [0.2-1.0] giga/L Metamyelocytes * 0.74 [0] giga/L Myelocytes * 0.86 [0] giga/L Promyelocytes * 0.12 [0] giga/L Slide comment Dohle bodies present Schistocytes Present Reticulocyte Count Retic Count * 11 [25-90] giga/L Immature Retic Fraction * 17.2 [3.0-15.9] % The peripheral blood film shows severely decreased platelets that are not dysplastic. There are many elliptocytes and tear drop cells, polychromasia and schistocytes. There is a leukoerythroblastic picture with hypersegmented hypo-granulated neutrophils many of which have prominent Dohle bodies.

Neutrophil 0.21 Band cell 0.12 Metamyelocyte 0.21 Myelocytes 0.18 Promyelocytes 0.04 Blasts 0.05 Erythroblasts 0.04 Plasma cells 0.00 Lymphocytes 0.05 Monocytes 0.08 Eosinophils 0.02 Basophils 0.00 Other cells 0.00 The aspirate has granules. The M:E is 20:1. Erythropoiesis is diminished and dysplastic with megaloblastoid changes, nuclear bridging, irregular nuclear borders and some poor hemoglobinization. Granulopoiesis is increased, left shifted, with many of the cells being dysplastic with poor granulation. Blasts are slightly increased at 5%. The number of megakaryocytes is also diminished and there are prominent micro-megakaryocytes present throughout. Iron stores are present and no ringed sideroblasts are seen. The bone marrow is >90% cellular. Megakaryocyte numbers are decreased and micro-megakaryocytes can be appreciated. There is no clustering. Erythropoiesis is diminished. No infiltrates or sheets of blasts, although there is some widening of the paratrabecular immature myeloid cuff. CD34 is negative in the mononuclear cells, but shows vessel proliferation. Reticulin staining is increased at grade 2, however there is no osteosclerosis or collagen fibrosis by masson-trichrome. Eosinophilia is not a particular feature. Abnormal male karyotype with abnormal chromosome 1p Normal MLL FISH Normal MYC FISH

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open GPEC 68 A in ImageScope
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open GPEC 68 B in ImageScope
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open GPEC 68 B CD117 in ImageScope
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open GPEC 68 B CD34 in ImageScope
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open GPEC 68 B Retc in ImageScope
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open GPEC 68 B Trichrome in ImageScope
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open GPEC 68 P-002 in ImageScope
Peripheral blood, aspirate and bone marrow biopsy: 1. Consistent with a myelodysplastic syndrome, best categorized as Refractory anemia with excess blasts-1 with fibrosis (RAEB-1). See comment. Diagnosis Comment: There is leukocytosis and bicytopenia (normocytic anemia and thrombocytopenia). Dysplasia is present in all 3 hematopoietic cell lines and blasts at 5%. In addition, reticulin staining is at grade 2. These findings are indicative of refractory anemia with excess blasts with fibrosis. The myeloid proliferation with increased reticulin, and dysplasia would also be consistent with an MDS/MPN neoplasm, such as MDS/MPN-Unclassifiable, or less likely bcr-abl negative atypical CML. Without significant monocytosis or eosinophilia, more specific classification of CMML or Myeloid neoplasm with PDGFRA/B are less likely. If not previously excluded, suggest FISH for t(9;22) to exclude CML (unlikely). JAK2 and karyotype would also be of interest.