PMC3654631_01
Bone marrow aspirate at relapse showing infiltration by myeloblasts, left shifted granulopoiesis, and marked hypereosinophilia.
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fig1
At this time, a repeated BM aspirate showed a hypercellular marrow, with myeloid hyperplasia, and infiltration by 11% of myeloblasts (Figure 1).
Cytogenetics of the patient's bone marrow (a) G-banded karyotype showing 46,XX,t(7;12)(q22;p13),add(16)(p13); (b) fluorescence in situ hybridization using a dual-color break-apart probe showing rearrangement of ETV6 (12p13) (c) whole chromosome painting of chromosomes 7 (red) and 12 (green) showing 46,XX, del(7)(q22),der(12)t(7;12)(q22;p13)t(12;16)(p13;p13);der(16)t(12;16).
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fig2
Conventional cytogenetic analysis showed 10 metaphases with t(7;12)(q22;p13) as well as the addition of unknown genetic material to the short arm of chromosome 16 (Figure 2(a)). FISH studies using a dual color break-apart probe were positive for the ETV6 (12p13) rearrangement (Figure 2(b)). To further characterize these alterations, whole chromosome painting of chromosomes 7 and 12 was conducted (Figure 2(c)) and revealed a complex pattern of rearrangements involving chromosomes 7, 12, and 16: 46,XX,del(7)(q22),der(12)t(7;12)(q22;p13)t(12;16)(p13;p13),der(16)t(12;16).