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A 5 6-year-old female presen ts for evaluation of pancytopenia after presenti ng to her primary care physician, complai ning of 3 mon ths of fatigue and bleeding gums. Patient den ies preceding ill nesses and has not been taking any new medications . Physical ex- amination shows no lymphadenopathy or hepatosplenomegaly. Labora tory workup is sign i ficant for a hemoglobin of 6 g/d l. reticulocyte i ndex of 0.5%, mean corpuscular volume of 97 fl. total leukocyte count of 2.300/,uL, absolute neutrophil count of 1 , 1 00/,uL, and platelet count of 1 2 ,000/,uL. Bone marrow b iopsy is obtai ned and no ch romosomal abnormalities are detected . Peripheral blood smear and bone marrow biopsy are shown below.
What is the most likely diagnosis?
- Aplastic anemia (AA)
- Anemia of chronic disease (ACD)
- Myelodysplastic syndrome (MDS)
- Myeloproliferative neoplasm (MPN)
- Autoimmune hemolytic anemia (AIHA)
Medicine
A. Presentation with new onset pancytopenia, macrocytic anemia, low reticulocyte index, and bone marrow biopsy revealing hypocellularity is diagnostic of AA. Hypocellular MDS constitutes a minority of MDS cases, which typically exhibit hypercellularity. The presence of clonal chromosomal abnormalities, especially those typically observed in MDS, provides a strong argument for a diagnosis of MDS rather than AA (Cancer. 1988;62(5):958, Br 1 Haematol. 1995;91 (3):612, Exp Hematol. 1 987;15(1 1):1 134).
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