Table 1. Tissue and ctDNA NGS results.
| Gene | cHGVS | pHGVS | Mutation frequency/copy number | |||
|---|---|---|---|---|---|---|
| Urothelial carcinoma (surgical tissue) | ctDNA, Aug. 2018 | Neck lymph node (biopsy) | ctDNA, Oct. 2018 | |||
| HRAS | c.35G>A | p.G12D | 15.30% | 3.70% | ND | 53.90% |
| TERT | c.-58-u88C>T | – | 13.80% | 2.00% | ND | 35.20% |
| HRAS | c.470A>G | p.Y157C | 13.50% | 3.60% | ND | 54.40% |
| TP53 | c.670G>A | p.E224K | 10.30% | 2.70% | ND | 46.80% |
| NRAS | c.401C[2>3] | p.K135Qfs*9 | 9.40% | 1.70% | ND | 24.10% |
| ROS1 | c.6437C>A | p.S2146Y | 5.20% | 1.60% | ND | 36.10% |
| EGFR | c.2240_2254delTAAGAGAAGCAACAT | p.L747_T751del | ND | 43.40% | 62.20% | ND |
| RBM10 | c.994C>T | p.Q332* | ND | 18.60% | 44.40% | ND |
| H3F3A | c.34delA | p.T12Pfs*25 | ND | 5.20% | 17.40% | ND |
| CBL | c.616C>T | p.R206* | ND | 4.00% | 13.60% | ND |
| EGFR | Amplification | – | ND | 6.8 | 11.6 | ND |
| IFNG | Amplification | – | ND | 4.4 | 6.6 | ND |
| CDK4 | Amplification | – | ND | 3.4 | 6.6 | ND |
| MDM2 | Amplification | – | ND | 3.8 | 6.4 | ND |
| TOP2A | c.28A>G | p.N10D | ND | ND | ND | 6.10% |
| TOP2A | c.4366G>A | p.D1456N | ND | ND | ND | 4.80% |
| HIST1H2BO | c.48G>C | p.K16N | ND | ND | ND | 3.90% |
| MLH3 | c.4306G>A | p.E1436K | ND | ND | ND | 1.90% |
| TMPRSS2 | c.1485delT | p.D495Efs*20 | ND | ND | ND | 1.60% |
| ASCL4 | c.125G>A | p.R42H | ND | ND | ND | 1.20% |
| MLH3 | c.322G>T | p.E108* | ND | ND | ND | 0.60% |
| CIC | c.92C>T | p.S31F | ND | ND | ND | 0.50% |
ctDNA, circulating tumor DNA; NGS, next-generation sequencing; ND, not detected.