Table 1.
Identification of somatic mutation in CSC.
| Gene name | Sample | HGVS c. | HGVS p. | Depth | Variant read | VAF (%) |
|---|---|---|---|---|---|---|
| KMT2B | FFPE | c.7804 A > G | p.Ile2602Val | 1692 | 221 | 13.1 |
| CSC | c.7804 A > G | p.Ile2602Val | 122760 | 42845 | 34.9 | |
| cfDNA | c.7804 A > G | p.Ile2602Val | 570143 | 1028 | 0.18 | |
| c.7804 A > C | p.Ile2602Leu | 66 | 0.011 | |||
| c.7804 A > T | p.Ile2602Phe | 87 | 0.015 | |||
|
cfDNA (GCTB-1) |
c.7804 A > G | p.Ile2602Val | 694481 | 1343 | 0.19 | |
| c.7804 A > C | p.Ile2602Leu | 94 | 0.013 | |||
| c.7804 A > T | p.Ile2602Phe | 64 | 0.0092 | |||
|
cfDNA (GCTB-2) |
c.7804 A > G | p.Ile2602Val | 692495 | 1412 | 0.20 | |
| c.7804 A > C | p.Ile2602Leu | 76 | 0.0098 | |||
| c.7804 A > T | p.Ile2602Phe | 63 | 0.0090 | |||
| MGA | FFPE | c.3628 C > G | p.Arg1210Gly | 588 | 36 | 6.12 |
| CSC, cfDNA | c.3628 C > G | p.Arg1210Gly | NA | NA | NA |
HGVS, Human Genome Variation Society; c., coding DNA sequence; p., protein sequence; VAF, variant allele frequency.
FFPE, formalin-fixed paraffin-embedded; CSC, circulating sarcoma cell; cfDNA, cell-free DNA; GCTB, giant cell tumor of bone; NA, not applied.