PMC3420701_01
Mild red cell anisocytosis with macrocytosis and moderate numbers of tear drops. Mild granulocyte left shift and dysplastic changes (hyposegmented and hypersegmented neutrophils). Peripheral blood film. Wrights stain x200.
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fig1
The blood film showed mild red cell anisocytosis with macrocytosis and moderate numbers of tear-drop red cells (Figure 1).
Marked megakaryocyte nuclear fragmentation, bone marrow aspirate, ICSH Romanovsky stain x1,000.
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fig2
Surprisingly, the bone marrow showed mild increase in megakaryocyte numbers with marked megakaryocyte dysplasia; although they appeared normal in size, the nucleus of most megakaryocytes was markedly fragmented (Figures 2, 3 and 4) containing up to 20 separate nuclear fragments.
Marked megakaryocyte nuclear fragmentation, Bone marrow aspirate, ICSH Romanovsky stain x1,000.
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fig3
Surprisingly, the bone marrow showed mild increase in megakaryocyte numbers with marked megakaryocyte dysplasia; although they appeared normal in size, the nucleus of most megakaryocytes was markedly fragmented (Figures 2, 3 and 4) containing up to 20 separate nuclear fragments.
Marked megakaryocyte nuclear fragmentation in a normocellular marrow, bone marrow trephine H&E x400.
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fig4
Surprisingly, the bone marrow showed mild increase in megakaryocyte numbers with marked megakaryocyte dysplasia; although they appeared normal in size, the nucleus of most megakaryocytes was markedly fragmented (Figures 2, 3 and 4) containing up to 20 separate nuclear fragments.
Negative cytokeratin immunohistochemistry, bone marrow trephine x200.
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fig5
Bone marrow examination was undertaken to exclude metastatic disease:of which there was none demonstrated on three heamatoxylin and eosin (H&E) levels and relevant neuroendocrine immunohistochemistry (cytokeratin and synaptophysin Figures 5 and 6, resp.).
Negative synaptophysin immunohistochemistry, bone marrow trephine x200.
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fig6
Bone marrow examination was undertaken to exclude metastatic disease:of which there was none demonstrated on three heamatoxylin and eosin (H&E) levels and relevant neuroendocrine immunohistochemistry (cytokeratin and synaptophysin Figures 5 and 6, resp.).
no increase in reticulin fibrosis, bone marrow trephine reticulin stain x200.
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fig7
There was no increase in reticulin fibrosis (Figure 7).
Representative conventional cytogenetics studies from the patient showing 46,XX,+1,der(1;7)(q10;p10). Image courtesy of A/Professor L Campbell, The Victorian Cancer Cytogenetics Service, St Vincents Hospital Melbourne.
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fig8
Conventional cytogenetics studies revealed an unbalanced translocation 46,XX,+1,der(1;7)(q10;p10) in 12 out of 20 cells fully examined (Figure 8), which was further supportive evidence for a diagnosis of refractory cytopenia with multilineage dysplasia (RCMD) according to WHO 2008 diagnostic criteria.