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Fig. 3 | Human Genomics

Fig. 3

From: A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease

Fig. 3

Use of the chromosomal translocation t(11;22)(p13;q12) as a personalized tool for patient monitoring along follow-up. a FISH analysis shows break apart probes for WT1 gene, indicating the occurrence of the fusion. b Mate-pair whole-genome sequencing detected paired reads mapping to EWS and WT1 genes. c PCR amplification followed by Sanger sequencing confirmed the breakpoint region involving intronic regions of EWS and WT1 genes. d Digital droplet PCR assays for detection of the somatic rearrangement EWS-WT1. Left panel—Screening of ctDNA from plasma samples collected serially along patient follow-up by ddPCR. No gene fusion was detected in ctDNA from the patient collected in four different time points after surgery, suggesting no relapse, recurrence, or progression of the disease. Presence of cell-free DNA is shown by detection of non-rearranged WT1 probes in the plasma samples from the patient and from control plasma sample. Middle panel—Serial dilutions of tumor DNA to check the sensibility of the approach in detecting the fusion event, starting from 60 ng of input following five dilution series of tenfold as indicated. Right panel—Detection of somatic rearrangement in different tumor DNA fractions, 1.0 and 0.1%

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Human Genomics

ISSN: 1479-7364