PMC10407260_01
A: Peripheral smear showing leukocytosis with increased blast cells B & C: Peripheral smear showing blast cells and giant platelets. D: Flow cytometry demonstrating the myeloblast population, which are CD34 and CD117 positive. E: Flow cytometry demonstrating the second population of cells which are dim CD45, CD34- and partial CD56.
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Peripheral smear examination showed marked leukocytosis with increased blasts (70%), nucleated RBCs, giant platelets, and megakaryocytic elements, both mature and immature (Fig. 1A, 1B, 1C). The first population was myeloblasts (20% of cells) (Fig. 1D), positive for partial HLA-DR.., CD38, CD34, CD117, partial CD33, CD7; negative for The second population was a population of dim CD45 CD34- cells (26% of cells) (Fig. 1E), positive for CD38, CD117, CD7, partial CD56, CD36, CD41, CD42b, CD61; negative for TdT, HLA-DR.., CD3 (surface and cytoplasmic), CD4, CD11b, CD13, CD15, CD19, CD64, CD123. These findings are morphologically and immunophenotypically consistent with TAM.
A: Karyotyping demonstrating additional copy of chromosome 21. B and C: FISH study demonstrating tetrasomy of chromosome 5 and tetrasomy of chromosome 7.
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Chromosome analysis demonstrated an abnormal female karyotype with trisomy 21 (Fig. 2A), thereby confirming DS. Specifically, four copies of chromosomes 5 and 7 and four copies of 4,10, and 17 were detected in 4.5% and 5.5% of cells, respectively (Fig. 2B, 2C).