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Pure erythroid leukaemia with leukaemic cells mimicking myeloma cells

A 78-year-old man was hospitalized with a 1-month history of severe weakness, asthenia, anorexia and weight loss. He was a smoker but had no previous history of alcohol excess, drug intake or toxin exposure. On examination, he had cutaneous and conjunctival pallor, hepatomegaly (3 cm), splenomegaly (2 cm) and oedema of both ankles. Full blood count showed pancytopenia with haemoglobin concentration 59 g/l; mean corpuscular volume, 86Æ4 fl; mean corpuscular haemoglobin, 28Æ6 pg and white blood cell count, 2Æ23 · 10/l with bands 5% bands, 72% neutrophils, 18% lymphocytes, 1% basophils and 4% monocytes. The platelet count was 68 · 10/l and reticulocyte count was 0Æ5% (16Æ7 · 10/l). Serum vitamin B12 and folate were normal. A bone marrow aspirate was hypercellular with an extensive infiltrate of abnormal cells comprising 88Æ5% of the total. These cells had a round eccentric nucleus with finely dispersed chromatin and one or more nucleoli. Binucleate and giant forms were frequently seen. Cytoplasm was abundant and intensely basophilic with vacuoles, some of which were coalescent (left). A periodic acid Schiff (PAS) stain showed block positivity (top right). Flow cytometric immunophenotyping showed that 40% of the total cells analyzed were positive for glycophorin A and negative for myeloid, lymphoid and plasma cell-associated antigens. Transmission electron microscopy showed typical features of erythroid cells, such as rhopheocytosis. Cytogenetic analysis showed a complex karyotype. BCR-ABL1 rearrangement by interphase fluorescence in situ hybridization was negative. The findings were consistent with de novo pure erythroid leukaemia with morphological features resembling those of myeloma cells. The pattern of PAS positivity is characteristic of erythroleukaemia. The initial blood film examination had not shown blast cells. However, a cytospin preparation of buffy coat revealed the presence of a few immature cells very similar in appearance to the cells infiltrating the marrow and also resembling myeloma cells (bottom right). The patient showed progressive deterioration and died 1 month after admission.