PMC6754882_01
Histopathology and cytogenetic features of the case. (a) Skin biopsy shows diffuse infiltrates in the dermis and subcutis, concentrated around the vessels and appendages. (b and c) Cells are positive for CD68 and myeloperoxidase, respectively. (d) Blasts show evidence of erythrophagocytosis. (e) Patient karyotype demonstrating t(8;19) (p11.2;q13.3). (f) Representative interphase cell demonstrating a KAT6A rearrangement by fluorescence in situ hybridization.
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A skin biopsy was notable for a monocytic infiltrative process consistent with leukemia cutis (Figures 1(a)-1(c)). Striking erythrophagocytosis was noted in the bone marrow biopsy (Figure 1(d)). Chromosome analysis showed translocation between the short arm of chromosome 8 and the long arm of chromosome 19 with resulting karyotype t(8;19)(p11.2;q13) (Figure 1(e)). Fluorescence in situ hybridization (FISH) was performed on a bone marrow aspirate smear using a KAT6A break-apart probe set (CytoTest Inc., Rockville, MD), confirming a KAT6A rearrangement in metaphases (seen in 50% of 200 interphase nuclei analyzed) (Figure 1(f)).