Table 3 Results of next generation sequencing.
Case No | Material | BKPyV genome | Tumor genome | |||||
|---|---|---|---|---|---|---|---|---|
Reads (n) | Genotype | Additional variant | Break point | BKPyV-DNA copies/cell | BKPyV integration site | Pathogenic/likely pathogenic variant | ||
1 | FFPE | 191 | Ib2 | 8 bp + 10 bp deletion NCCR | LTag | 0.77 | 11p14; LGR4: Promotor?, 4 kb upstream of LGR4 | None |
2 | FFPE | 143 | IV | nd | nd | 0.3 | nd | TTN (p.Arg28364*), PCLO (p.Arg3542*), PANK2 (p.Thr237Met), KMT2D (p.Pro4914Leu) |
3 | FFPE | 1.606 | IV | 7 bp + 23 bp deletion NCCR | VP2 | 4.3 | 6p22; DEK/RNF144B intergenic | ATM (p.Lys1965fs), RYR1 (p.Arg4825Cys) |
4 | FFPE | 176 | Ib2 | nd | VP3 | 0.61 | 2p21; THADA: intron 23 or 24 | FLG (p.Ser1906*) |
5 | Fresh frozen tissue | 1.946 | Ia | nd | VP2 + VP3 | 2.87 | 9q21; SMC5/KLF9 intergenic + 3p21/5p15; PRKAR2A/SLC6A1 possible translocation? | None |