Case study: Refractory anemia with excess blasts 1 (RAEB 1). Case 1 (Refractory anemia with excess blasts)
Previously diagnosed bone marrow hemophagocytosis and atypical lymphoid infiltration (IgH gene rearrangement studies were negative), currently progressive pancytopenia ?myelodysplasia. Known translocation (3;21) suggestive of constitutional finding
WBC Count * 2.4 [4.0-11.0] giga/L RBC Count 3.93 [3.80-5.20] tera/L Hemoglobin * 103 [120-155] g/L Hematocrit * 0.32 [0.35-0.45] MCV * 81 [82-98] fL RDW 14.6 [11.0-15.0] % Platelet Count ** 30 [150-400] giga/L Neutrophils * 0.6 [2.0-8.0] giga/L Lymphocytes * 0.9 [1.2-3.5] giga/L Monocytes 0.9 [0.2-1.0] giga/L Eosinophils 0.0 [0.0-0.7] giga/L Basophils 0.0 [0.0-0.2] giga/L Retic Count 72 [25-90] giga/L Immature Retic Fraction 7.5 [3.0-15.9] % Peripheral blood film shows slightly microcytic hypochromic anemia with nonspecific anisocytosis and occasional elliptocytes. There is neutropenia with unremarkable morphology and marked thrombocytopenia.
Neutrophil 0.05 Band cell 0.06 Metamyelocyte 0.15 Myelocytes 0.07 Promyelocytes 0.04 Blasts 0.06 Erythroblasts 0.33 Plasma cells 0.01 Lymphocytes 0.11 Monocytes 0.10 Eosinophils 0.01 Basophils 0.01 Other cells 0.00 Bone Marrow Aspirate and Biopsy: The bone marrow aspirate and biopsy show above 50-60% cellularity increase for age. ME ratio is about 1-2:1. Megakaryocytes appear increased in number with numerous hypolobated and monolobated forms. Micromegakaryocytes are also seen. Erythropoiesis is essentially normoblastic with minimal dyserythropoiesis. Granulopoiesis is in all stages of maturation. Mature neutrophils show Dohle bodies and poor chromatin clumping. Blasts are increased at about 6% of the differential. Lymphoplasmacytic component is unremarkable. Iron stains show reduced iron stores and no ringed sideroblasts. The biopsy shows trilineage hematopoiesis. Lymphoid infiltrates are seen in paratrabecular and adjacent to the bony trabeculae locations as previously, suggestive of atypical lymphoid aggregates. There is no evidence of granulomas or metastatic disease.
Blood, bone marrow aspirate and biopsy: 1. Consistent with myelodysplastic syndrome; refractory anemia with excess blasts type 1 (RAEB-1) according to WHO 2008 classification. 2. Atypical lymphoid aggregates as previously documented. Cytogenetics to follow. Abnormal female karyotype with 3;21 translocation