Skip to main content
. 2022 Mar 26;25(4):104167. doi: 10.1016/j.isci.2022.104167

Figure 1.

Figure 1

Genomic aberrations in pediatric renal cell carcinomas (pRCC, n = 25)

Tumor mutational burden, number of SNV/Indels in WES, genes affected by recurrent nonsynonymous somatic aberrations# and canonical adult RCC-associated genes bearing somatic aberrations, as well as gene fusions and germline predisposition genes in different histologic and clinical subgroups of the pRCC cohort.

# Only the most important recurrent somatic aberrations are selected; in total 39 recurrent SNV/Indels were detected after exclusion of RCC987; complete list in Table S3.

∗ Cases without control blood DNA.

§ RCC380: initially histologically classified as “unclassified” subtype, but after sequencing data analysis recognized as harboring a germline FH-mutation with bi-allelic FH-inactivation, i.e., as a FH-deficient RCC subtype.

▪ Gray shaded bar: RCC987 is probably highly biased by FFPE artefacts. For this sample, all SNV/Indels shown in the somatic aberrations have been manually verified in IGV. A slightly higher SNV/Indel count is expectable, as this was the only case of a primarily localized papillary RCC with a fatal disease course following a disseminated metastatic relapse within 2 years (plus initial high LDH [3.047 U/l] and high ferritin/CrP level).

For patients with more than one tumor sample taken from different locations of the tumor piece of the same disease episode, the mean of the SNV and indel number of these tumor samples was calculated for each patient and used for calculation of tumor mutational burden (TMB) and in this figure.

RCC544_I/RCC_544_II: tumor Samples from the same patient with 10 years in between (RCC544_I from initial phase abdominal tumor material; RCC544_II from lung metastasis after 10 years).

∗ Acyl-CoA-related genes: ACSBG2 (3 SNVs) in RCC544_I, ACSM3 in RCC751, ACSM2B in RCC419, ACSL5 in RCC1230, ACBD7 in RCC987, ACOT13 and ACOX1 in RCC1230, ACADSB in RCC 419.

∗CHD: CHD1 in RCC1230, CHD4 in RCC751, CHD5 in RCC987, CHD6 in RCC419.

∗ MAPK: MAP3K9 in RCC996 und RCC1230, MAP2K5 in RCC1230, MAP2K7 in RCC419, MAP4K1 in RCC544_I, MAP4K3 in RCC751∗ SWI/SNF: SMARCA4 in RCC987, SMARCA2 in RCC419, SMARCC1 and SMARCC2 in RCC1230.