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. 2021 Dec 20;14(4):e14608. doi: 10.15252/emmm.202114608

Figure EV1. Molecular aberrations in 55 pediatric high‐risk cancers.

Figure EV1

  1. Genes with somatic and germline DNA mutations (single‐nucleotide variant (SNV) and indel) considered to be pathogenic or likely pathogenic by whole genome sequencing (WGS) and/or panel sequencing. Thirty of 55 samples were found to have 1 or more pathogenic or likely pathogenic mutations. The cohort consists of 27 central nervous system (CNS) tumors, 8 hematologic malignancies (HMs), and 20 non‐CNS solid tumors. Targetable aberrations are indicated by asterisks.
  2. Tumor mutation burden (TMB) derived from WGS in 23 samples obtained at diagnosis and 24 samples at refractory/relapse.
  3. Structural variants (SVs) detected by WGS and/or RNA‐seq in 55 samples. Seventeen reportable SVs included 13 fusions, 2 oncogenic activating (ACT) SVs, and 2 tumor suppressor (TS) loss‐of‐function SV.
  4. Reportable copy number variations (CNVs) included amplifications (≥ 6 copies), loss of heterozygosity (LOH) associated with a loss‐of‐function mutation in a tumor suppressor gene (TSG LOH) and homozygous deletion (HOMDEL) of TSG. Twenty‐four samples were found to have 1 or more reportable CNV. Targetable aberrations are indicated by asterisks.