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A 67 -year-old female is referred for evaluation of chronic anemia and thrombocytope nia. Physical examination reveals no lymphadenopathy or hepatosplenomegaly. Labo ratory evaluation shows hemoglobin of 9. 7 g/dL, mean corpuscular volume of 1 OLJ FL. leukocyte count of 5.800/,uL. and platelet count of 6LJ,OOO/,uL. Peripheral blood smear is shown below.
Bone marrow aspiration revealed 2% blasts. and a sample of bone marrow aspirate is shown below.
What is the most likely diagnosis?
- Refractory cytopenia with unilineage dysplasia (RCUD)
- Refractory anemia with excess blasts (RAEB)
- 5q-syndrome
- Acute myeloid leukemia (AML)
- Myelofibrosis
Medicine
A. Peripheral blood smear reveals anisopoikilocytosis and the presence of nucleated red blood cell (RBC) precursors, one with nuclear budding, with absent blasts. Bone marrow biopsy reveals hypercellularity, and the aspirate demonstrates abnormal RBC progenitors exhibiting multinucleation, nuclear budding, and abnormal nuclear forms. Bone marrow blast count is less than 5%, with absence of significant dysplastic changes in other hematopoietic lineages. This is the classic presentation of refractory anemia with unilineage dysplasia (RCUD). Refractory anemia constitutes 21% of newly diagnosed cases of MDS and is characterized by low risk of progression to AML. Cases of 5q-syn drome classically present with female predominance, preserved leukocyte and platelet counts, and thrombocytosis with increased number of abnormal hypolobated micromegarakyocytes (Blood. 2004;103(9):3265, Blood. 2002;100(7):2292, Blood. 2009;113(25):6296, 1 Clin Oneal. 2007;25(23):3503).
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