Somatic mutations in FFPE hepatoblastoma sample from Patient 1
A total of 36 somatic coding
non-synonymous mutations were disclosed in the tumor sample, which
mapped to 36 different genes, comprising two LoF, in the ANKRD22and FRY genes, and thirteen missense variants reported as
pathogenic in more than five pathogenicity databases. Two of the
detected mutations were already reported in COSMIC: CTNNB1(c.101G>T - COSM5670), variant already reported in
hepatoblastomas, and RHBDL1 (c.1211G>A - COSM97348),
detected in endometrium tumors.
Exome data was used to generate a genomic CNA profile from the tumor
sample (Supporting Information Figure S3), only alterations larger than
3 Mb were considered. Gains were detected in 2q, 8 and 17q in
hepatoblastoma from Patient 1 (Supporting Information Table S4).