Array Comparative Genomic Hybridization Detects Chromosomal Abnormalities in Hematological Cancers That Are Not Detected by Conventional Cytogenetics  Lina Shao, Sung-Hae L. Kang, Jian Li, Patricia Hixson, Jesalyn Taylor, Svetlana A. Yatsenko, Chad A. Shaw, Aleksandar Milosavljevic, Chung-Che Chang, Sau Wai Cheung, Ankita Patel  The Journal of Molecular Diagnostics  Volume 12, Issue 5, Pages 670-679 (September 2010) DOI: 10.2353/jmoldx.2010.090192 Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 aCGH results for cases 2 and CLL-4. A: Case 2 was a patient with relapsed AML. The aCGH genome summary plot is shown in the top panel from chromosome 1 on the left and the sex chromosomes on the right. The black data points indicate no copy number change, the red indicates copy number loss, and the green indicates copy number gain. The copy number loss of 17p and gain of 17q is indicated by the red circle. The chromosome 17-specific plot is shown at the bottom left. The bottom right panel shows the FISH analysis with probe RP11–525O11 (red) and probe RP11–769P22 (green). Loss of 17p and gain of 17q were present in the same interphase nucleus suggesting the presence of an isochromosome 17. B: Case CLL-4. The aCGH genome summary plot shows multiple copy number changes. The findings that were consistent with the previous CLL FISH panel analysis (deletions of TP53 and 13q, and trisomy of chromosome 12) are indicated by the blue circles. Additional copy number changes detected by aCGH analysis are indicated by the arrows. The Journal of Molecular Diagnostics 2010 12, 670-679DOI: (10.2353/jmoldx.2010.090192) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 aCGH results for cases 35 and 38. The aCGH genome summary plot is shown from chromosome 1 on top and the sex chromosomes on the bottom. The data points are colored as described in Figure 1. Chromosome-specific plots are shown to the left and right with corresponding ideograms and images of the G-banded chromosomes. The copy number changes detected by aCGH are indicated by the circles on the summary plot and by the red boxes on the ideograms. A: Case 35 was a patient with NHL-B. Chromosome analysis of the patient showed two apparently balanced translocations: t(2;6)(q35;q22) and t(2;8)(p23;q22). Copy number losses corresponding to the apparent translocation breakpoints identified by chromosome analysis are on 2q35 and 6q22 and 2p23 and 8q22. An additional copy number loss was detected on chromosome 2q24. B: Case 38 was a patient with MDS. The top left is a partial karyotype of chromosomes 3 and 7 showing normal chromosome 3 homologues, a normal chromosome 7, and an isoderivative chromosome 7 with an apparent interstitial deletion of bands 7q22–q34 (arrow). A gain of the pericentric region of chromosome 7 (7q11.21q21.1) and losses of both fragments distal to this region on chromosome 7, and a gain on chromosome 3q26.2q29 are shown. FISH analysis with probes to the regions of copy number gains on chromosome 3q (RP11–513G11, green) and 7q (RP11–622P13, red) showed four hybridization signals from the chromosome 3q probe and three from the 7q probe. Two signals each were present on the isoderivative chromosome 7 confirming that the abnormal chromosome 7 was composed of chromosomes 3 and 7. The Journal of Molecular Diagnostics 2010 12, 670-679DOI: (10.2353/jmoldx.2010.090192) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions