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. 2015 Jul 14;29(11):2202–2207. doi: 10.1038/leu.2015.132

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Copyright © 2015 Macmillan Publishers Limited

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Diagnostic and late relapse clones share an identical BCR-ABL1 fusion sequence with a discordant intra-gene deletion of IKZF1. (a) Upper panel: PCR primers that span the BCR-ABL1 breakpoint identified in diagnostic material (MR87, CL) were used to interrogate DNA isolated at relapse (bone marrow (BM) and peripheral blood (PB)). An identical product is seen in all patient samples but not in leukemia controls. Lower panel: DNA sequence of the BCR-ABL1 fusion and comparison with wild-type BCR and ABL1 gene sequences (GRCh37.p13). The DNA sequence was identical in both diagnostic and relapse samples. (b) Upper panel: DNA fusion sequence (GRCh37.p13) of the IKZF1 deletion at diagnosis reveals a 50-kb deletion between introns 2 and 7. Lower panel: the deletion/fusion product present at diagnosis (MR87 and CL) is not observed at relapse (BM and PB) or in DNA from leukemia controls.