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Case Reports
. 2016 Apr 8;6(4):e413.
doi: 10.1038/bcj.2016.18.

A Genomic Analysis of Philadelphia Chromosome-Negative AML Arising in Patients With CML

Free PMC article
Case Reports

A Genomic Analysis of Philadelphia Chromosome-Negative AML Arising in Patients With CML

K Krysiak et al. Blood Cancer J. .
Free PMC article


Figure 1
Figure 1
Exome variants in CML samples versus AML samples arising in the same patient. Genomic DNA was isolated from cryopreserved AML bone marrow aspirates, CML bone marrow fixed core and a skin punch biopsy (control) for sequencing. (a) Exome (Y axis) versus Ampliseq (X axis) allele frequencies for case 2 variants that validated by Ampliseq (N=29) are plotted for both AML (left panel) and CML (right panel) samples. Pearson's correlation coefficient is shown. (b) Filtered exome variants plotted by allele frequency in CML sample (Y axis) versus frequency in AML sample (X axis) for case 1 (left panel, N=52) and case 2 (right panel, N=33). (c) Sanger sequencing traces showing region of EEF1A1 5′ UTR from case 1. CML and AML samples show GGGC deletion in one allele (left and middle panels, arrows) whereas T lymphocytes sorted from a remission sample shows wild-type sequence (right panel, red bracket).

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