Figure 2.

Genomic analysis of the tumor sample. (A) Copy number profiling using Affymetrix HD SNP-microarray shows a genomic profile with 11q-deletion and 17q-gain indicative of high-risk neuroblastoma. (B) Two different likely pathogenic variants in the FANCA gene were detected through exome sequencing and confirmed in constitutional DNA of the patient. Read mapping is visualized in IGV. (C) Exome sequencing also detected a novel ALK I1171T mutation in the tumor that was confirmed to be somatic through Sanger sequencing. Electrophorogram of tumor in upper panel and from constitutional DNA in lower panel.