PMC5774134_01
PMC5774134_02
Overall graphical summary of CNAs in patients with hyperdiploid MM and CTH affected chromosome 18
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Fig1
CNAs were observed as deletions in 1q, 8p and 16p, while areas of gain of genetic material were found in 1q and 16q. Complex chromosomal changes were detected in chromosome 18 and positively identified as chromothripsis (Fig. 1).
Detailed visualization of chromothripsis affecting of chromosome 18. Array-CGH detected 6 breakpoints, 12 areas of loss and 4 areas of gain of genetic material
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Fig2
Mbp affected with amplification (5-6 copies) in 18q21 (Fig. 2). Moreover, in 16p13.13-16p11.2, we found another area of amplification approximately 22.5 Mb of size, harboring 259 genes spawning from SOCS1 to SLC6A10P.
Overview of 338 variants from next-generation sequencing of 62 hematooncology associated genes from Sistema Genomicos custom panel
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Fig3
Genomicos, Spain) showed total of 338 variants. Graphical overview of variant types is shown in Fig. 3.