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. 2023 Jul 7;15(13):3532. doi: 10.3390/cancers15133532

Figure 1.

Figure 1

Genetic alterations detected in tumor tissue and cfDNA extracted from CSF. (A) Copy number profile in an EMTR showing amplification of C19MC in both samples (patient 23). (B) Copy number profile of an EBT NOS with an amplification on chr 20 in both samples, as well as gains of chromosomes 2, 7, 12 and 18 (patient 25). (C) SNVs detected in WES of the primary tumor, and WES and targeted sequencing of cfDNA, with labels indicating the number of reads supporting the SNVs, coverage at the given position and percentage of variant allele fraction: an SMARCB1 mutation in ATRT (patient 1); a CTNNB1 mutation seen by WES of the primary and targeted sequencing of cfDNA (patient 5). Heterogeneity of SNVS observed in an MB with an SMARCA4 alteration seen in the primary tumor but not in CSF and DNMT3A seen in CSF but not in the primary tumor (patient 14). Heterogeneity of SNVs with KMT2D alterations seen in CSF but not in the primary tumor and an FANCI SNV seen in both (patient 17).