Figure 3: CNV and LOH analysis. | Nature Communications

Figure 3: CNV and LOH analysis.

From: Whole-exome and targeted sequencing identify ROBO1 and ROBO2 mutations as progression-related drivers in myelodysplastic syndromes

Figure 3

(a) CNV analysis in unstable MDS with a lower risk stage (before progression, n=14), unstable MDS at a higher risk stage (after progression, n=14) and stable MDS at a lower risk stage (n=10). All of the unstable patients were from the same 14 cases despite the different disease stages. The results of the CNV and LOH analysis showed that the frequency of CNV and LOH in the ROBO1 and ROBO2 locus increased from the lower to the higher risk stages in 14 paired MDS patients. (b) The CNV and LOH between the patients with (n=14) and without (n=10) ROBO mutations were also compared. Those patients with ROBO mutations harboured several differential genomic changes, including CN loss in 17p13.1 (35.7% versus 0%), CN gain in 14p11 (28.6% versus 0%) and 16q11.2 (28.6% versus 0%) and allelic imbalance of 5q14.3-q34 (35.7% versus 0%).

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