Fig. 2

Identification of genomic alterations by WES from a DDLPS patient. a Identification of a somatic NF1 mutation. The red T letters indicate the presence of a truncating mutation (c.7486C > T, p.Arg2496*, variant allele frequency 15.7%) in NF1 gene. b Genome-wide copy number alternation profile of the DDLPS patient. X-axis represents individual chromosome, and Y-axis represents depth ratio (tumor/constitutional) in log2 scale. Red and blue lines indicate the threshold of copy gain and copy loss. Bold red line indicates the threshold of amplification. Red and blue arrows represent the copy gain/amplification and loss, respectively. c Copy number alternation profiles of chromosome 1, 7, 8, 9, 12, and 20. X-axis represents individual chromosome, and Y-axis represents depth ratio (tumor/constitutional) in log2 scale. Red arrows represent the copy gain or amplification regions where known DDLPS related genes are located. Chromothripsis events were observed in 7p, 9q, and 20q