Clinical Lymphoma, Myeloma and Leukemia

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Clinical Lymphoma, Myeloma and Leukemia Whole Genome Mate-pair Sequencing of Plasma Cell Neoplasm as a Novel Diagnostic Strategy: A Case of Unrecognized t(2;11) Structural Variation Jess F. Peterson, Reid G. Meyer, Stephanie A. Smoley, Matthew Webley, James B. Smadbeck, George Vasmatzis, Kathryn Pearce, Patricia T. Greipp, Rhett P. Ketterling, Fiona E. Craig, A. Keith Stewart, Linda B. Baughn Clinical Lymphoma, Myeloma and Leukemia DOI: 10.1016/j.clml.2019.06.006 Copyright © 2019 The Authors Terms and Conditions

Figure 1 A, Bone Marrow Aspirate Smear Demonstrating an Infiltrate of Plasma Cells and Cells With a More Lymphoid Appearance (Indicated by *) (Wright Stain 50×). B, Representative Bone Marrow Biopsy Section Demonstrating an Interstitial Infiltrate With a “Lymphoid” Appearance (Hematoxylin and Eosin Stain 50×). Bone Marrow Biopsy Section Showing Immunohistochemical Stain for CD138 (C), CD20 (D), IgG (E), and Cyclin-D1 (F) Highlighting the Infiltrate (20×) Clinical Lymphoma, Myeloma and Leukemia DOI: (10.1016/j.clml.2019.06.006) Copyright © 2019 The Authors Terms and Conditions

Figure 2 Representative FISH Results for IGH/CCND1 D-FISH (A), LAMP1 and RB1 Enumeration Probes on Chromosome 13 (B), and CCND1 BAP Studies Performed on a Paraffin-Embedded Bone Marrow Specimen (C). Although IGH/CCND1 D-FISH Was Negative for IGH/CCND1 Rearrangement, 3 CCND1 Signals Were Observed. The LAMP1 and RB1 Probe Demonstrated Only a Single Signal for Each Probe Consistent With Monosomy 13. The CCND1 BAP Probe Demonstrated 1 Intact Fusion Signal and 1 Signal Disruption (Separation of Red and Green Signals). MPseq Results Visualized Using Ingenium Software. D, Junction Plot Demonstrating a Rearrangement of the IGK Locus From Chromosome 2p11.2 to the CCND1 Gene on Chromosome 11q13. E, A Schematic of the IGK and CCND1 Gene Regions on the Derivative Copies of Chromosomes 2 and 11. Horizontal Dashed Red Lines Indicate the Breakpoints on Derivative Chromosomes 2 and 11, and the Subsequent Location of the CCND1 BAP and CCND1 and IGH D-FISH Footprints Abbreviations: FISH = fluorescence in situ hybridization; IG = immunoglobin. Clinical Lymphoma, Myeloma and Leukemia DOI: (10.1016/j.clml.2019.06.006) Copyright © 2019 The Authors Terms and Conditions