Skip to main content
. Author manuscript; available in PMC: 2019 May 1.
Published in final edited form as: Cancer. 2018 Feb 20;124(9):1973–1981. doi: 10.1002/cncr.31286

Figure 4. Mutational spectrum of PF- D3 RMS.

Figure 4

Mutations in RAS, NOTCH, Hh and mTOR pathway genes and in genes previously found mutated in RMS3, 4. SNVs were considered if they were non-synonymous, detected in a tumor fraction >30%, not present in normal muscle samples and listed in the Exome Variant Server, NHLBI Exome Sequencing Project (ESP), Seattle, WA, USA, with a population frequency < 1%). InDels were considered if allele frequency was > 25%. The number of SNVs and Indels refers to the total number of aberrations observed in the tumor. Of note, only 2 of 3 recurrent cases were included in the sequencing analysis; one recurrent case was excluded because of insufficient DNA availability.