A rare case of myelodysplastic syndrome (MDS) featuring CD34+ micromegakaryocytes and giant platelets in peripheral blood has been reported, highlighting the risk of misdiagnosis as acute leukemia.

A 57-year-old male veteran with a history of MDS, alcoholic cirrhosis and portal hypertension presented to the emergency department in 2020 after a blackout. Peripheral blood analysis revealed 8% CD34+ cells, initially raising concern for leukemic transformation. Subsequent studies determined the cells were dysplastic micromegakaryocytes and giant platelets rather than blasts.

The patient was followed for four years, remaining alive but experiencing persistent fatigue. Laboratory tests showed pancytopenia and iron-deficiency anemia.

Researchers concluded that the presence of CD34+ dysplastic giant platelets in MDS is unusual and may lead to overdiagnosis of acute leukemia. They emphasized the importance of integrating morphologic and flow cytometric findings to avoid misinterpretation. Further study of CD34+ dysplastic platelets could deepen understanding of MDS pathology.

The study was recently published in the Journal of Clinical and Translational Pathology.