Figure 3.

FISH analysis using MYC break-apart probes (A) and SNP array analysis of bone marrow and extramedullary tissue biopsies (B, C, D). (A). MYC FISH analysis showed multiple copies of MYC in the tissue biopsy of case 1 (Left), a MYC translocation with split signal patterns in the bone marrow (Middle), and a more complex abnormal MYC signal pattern in the tissue biopsy of case 2 (Right). 5’ and 3’ MYC probes are labeled in spectrum green and spectrum red, respectively. Abnormal cells are highlighted by yellow arrows. (B). SNP array analysis of paired bone marrow (Upper) and tissue (Bottom) biopsies from case 1 showed a hyperdiploid genomic profile with gains of chromosomes 3, 5, 6, 7, 9, 15, 17 and 19 in the bone marrow and more complex alterations in the tissue, including gains of 1q, chromosome 2 and 6p, deletions of 6q and 8p, high level gain of 8q including MYC and gain of 11q. (C). SNP array analysis of paired bone marrow (Upper) and tissue (Bottom) biopsies from case 2 showed a hyperdiploid clone with gains of chromosomes 5, 6, 9, 11, 15, 17, 19, 20 and 21, gain of 3q and deletion of 19q in the bone marrow and additional alterations in the tissue, including deletion of 1p, gain of 1q, deletion of 4p, gain of 4q, loss of chromosome 13, gain of 15q, deletion of 17p including TP53 and deletion of 19q. (D). SNP array analysis of case 6 (tissue biopsy only) showed a doubling hypodiploid clone with gains of chromosomes 3, 7, 9, 11, 18 and 19, gains of 1q, 4q, 5p and 15q and copy-neutral loss of heterozygosity (allele differences, bottom part) of all disomic chromosomes/arms of the 1, 2, 4, 5, 6, 8, 10, 12, 13, 14, 15, 16, 17, 20, 21, 22 and X chromosomes. The left Y axis is a log2 ratio (−1.5–1.5), whereas the right Y axis is a smooth signal copy level (0–4).