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A Young Man With Thrombocytopenia and Leukopenia
May-June 2024, Volume 21, Issue 3

A Young Man With Thrombocytopenia and Leukopenia

Qing Wei, MD1, and Chi Young, MD
1. Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX
Published on:  April 16, 2024

A 23-year-old man presented with leukopenia and thrombocytopenia persisting for four years. He complained of occasional epistaxis and easy bruising every few months. He had no history of medication. An extensive prior workup at an outside hospital, including HIV testing, bone marrow biopsy, flow cytometry for paroxysmal nocturnal hemoglobinuria, and assessments for rheumatologic and infectious diseases, yielded negative results. Abdominal ultrasound demonstrated hepatomegaly (17.7 cm) and splenomegaly (15.2 cm). Serum vitamin B12 was elevated (2,841 pg/mL; reference range: 232-1,245 pg/mL). A complete blood count with differential revealed normal red blood cell count and hemoglobin (5.27 × 109/L and 16.7 g/dL, respectively), leukopenia (2.5 × 109/L; neutrophils: 1.03 × 109/L; lymphocytes: 1.14 × 109/L) and thrombocytopenia (89 × 109/L). Bone marrow aspiration with biopsy was performed (Figure). Cytogenetic study showed normal karyotype. A next-generation sequencing of a myeloid panel revealed no somatic mutations.

 

Figure. Peripheral blood showed agranular platelets with variable size (A, Wright stain, 1000×). Bone marrow touch preparation showed a megakaryocyte with prominent (B, Giemsa stain, 1000×). Bone marrow biopsy showed normocellular bone marrow (70%) with trilineage hematopoiesis and frequent emperipolesis in megakaryocytes (C, hematoxylin and eosin stain, 400×; inset, 1000×). The CD61 stain highlights megakaryocyte emperipolesis (D, immunohistochemistry with hematoxylin counterstain, 1000×).

 


 

Drs. Wei and Young indicated no relevant conflicts of interest.

 

References

  1. Glembotsky AC, De Luca G, Heller PG. A Deep Dive into the Pathology of Gray Platelet Syndrome: New Insights on Immune Dysregulation. J Blood Med. 2021;12:719-732.
  2. Sims MC, Mayer L, Collins JH, et al. Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome. Blood. 2020;136(17):1956-1967.
  3. Di Buduo CA, Alberelli MA, Glembostky AC, et al. Abnormal proplatelet formation and emperipolesis in cultured human megakaryocytes from gray platelet syndrome patients. Sci Rep. 2016;6:23213.

 

 
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