A 61-year-old woman saw her primary care physician because of fatigue and dyspnea on exertion for the past 3 months

Past medical history noted that the patient had been treated 5 years earlier with the DNA alkylating agent cyclophosphamide, non-Hodgkin lymphoma.

A CBC revealed the following:
WBC: 3.6 x 109/L
RBC: 2.8 x 1012/L
Hb: 9.1 g/dL
MCV: 104 fL
Reticulocyte count: 2.0%
Normal vitamin B12 and folic acid levels
PLT: 120 x 109/L
Differential: 6% blasts

A bone marrow biopsy revealed hypercellularity, and dyshematopoiesis of all three myeloid lineages.
Suggest an appropriate follow-up test and a likely diagnosis for this patient.

What will be an ideal response?


Answer: Cytogenetics would be an appropriate follow-up test and would likely reveal a complex karyotype. The likely diagnosis is therapy-related myelodysplasia indicated because of the earlier treatment with cyclophosphamide and the trilineage cytopenias and dysplasia.

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