Table 2.
Details of ctDNA Alterations for Patients With Detectable Results and Subsequent ctDNA Specimens
| Age and Sex | Primary tx | AJCC T | Initial ctDNA Findings | Initial ctDNA VAF | Timepoint (From Primary tx) of Subsequent Specimen and VAF | Radiographic Metastatic STATUS |
|---|---|---|---|---|---|---|
| Initially detectable, VAF increased | ||||||
| 70s F | Plaque | cT2a | TP53 exon5 p.A161V | 1.29% | 20 mo: 2.09% | No mets through 20 mo |
| 80s M | Plaque | cT2a | NF1 exon26 p.N1156D | 0.32% | 4 mo: GNAS exon8 p.R201C 0.19%, NF1 0.43% | No mets through 16 mo |
| 60s F | Plaque | cT2a | SF3B1 exon15 p.K700E | 0.59% | 1 mo: 0.43%; 5 mo: 0.54%; 8 mo: 0.60% | No mets through 8 mo |
| 50s F | Plaque | cT1a | SF3B1 exon14 p.K666R | 1.42% | 5 mo: 1.59% | No mets through 5 mo |
| 60s F | Plaque | cT3b | GNAQ exon5 p.Q209L; NF1 exon27 p.G1168D | GNAQ: 0.37%; NF1: 0.25% | 8 mo: NF1 0.28%, GNAQ 0%, MSH2 exon4 p.E260K 0.64%; 20 mo: NF1 0.31%, TSC2 exon39 p.X1690_splice 0.7% | No mets through 28 mo |
| 60s M | Enuc | cT3a | GNAQ exon5 p.Q209L; KEAP1 exon3 p.C395Y | GNAQ: 0.32%; KEAP1 0.28% | 1 mo: GNAQ 0%, KEAP1 0.2%; 6 mo: GNAQ 0%, KEAP1 0.11%; 12 mo: GNAQ 0%, KEAP1 0.35% | No mets through 13 mo |
| 70s F | Plaque | cT2b | GNAS exon8 p.R201H | 0.29% | 7 mo : 0.53%; 13 mo : 0.53%; 19 mo : 0.72% | Mets at 15 mo |
| Initially detectable, Became undetectable | ||||||
| 70s M | Plaque | cT4b | SF3B1 exon14 p.R625C | 0.16% | 1 mo: 0% | No mets through 3 mo |
| 40s F | Plaque | cT1a | FOXO1 exon1 p.S22W | 0.25% | 12 mo: 0%; 18 mo: 0%; 25 mo: 0% | No mets through 24 mo |
| 60s F | Plaque | cT2a | CDKN2A exon2 p.D108N | 0.13% | 9 mo: 0%; 15 mo: 0% | No mets through 23 mo |
| 50s F | Plaque | cT3b | GNA11 exon5 p.Q209L; SF3B1 exon14 p.R625H | GNAQ 1.22%; SF3B1 1.27% | 7 mo: 0%; 13 mo: 0%; 19 mo: 0% | No mets through 26 mo |
| 50s F | Plaque | cT2b | GNAQ exon5 p.Q209L; EIF1AX exon2 p.R13P | GNAQ 0.88%; EIF1AX 0.56% | 1 mo: 0% | No mets at 1 mo |
| Initially detectable, no follow-up | ||||||
| 40s M | Enuc | cT3b | FOXO1 exon1 p.S22W | 1.26% | No f/u | No f/u |
| Initially undetectable, became detectable | ||||||
| 60s M | Plaque | cT2a | N/A | N/A | 8 mo: TRK1-FRRS1 rearrangement: c.1838:NTRK1_c.1120+62:FRRS1inv; 17 mo: undetectable | No mets through 17 mo |
| 50s M | Plaque | cT2a | N/A | N/A | 0.1 mo: 0%; 12 mo: 0%; 18 mo: SF3B1 exon14 p.K666Q 1.65% | No mets through 25 mo |
| 50s M | Plaque | cT2a | N/A | N/A | 8 mo: MSH6 exon2 p.L148I 0.22% | no mets through 8 mo |
| 70s M | Plaque | cT3a | N/A | N/A | 20 mo: TP53 exon7 p.R248Q 0.48%, ATM exon50 p.V2441D 0.64% | No mets through 24 mo |
| 60s F | Plaque | cT2a | N/A | N/A | 12 mo : FOXO1 exon1 p.S22W 0.6%; 19 mo: 0.91% | Mets at 20 mo |
| 60s F | Plaque | cT2a | N/A | N/A | 8 mo: 0%; 14 mo: NF1 exon47 p.D2326Y 0.32% | No mets through 18 mo |
| 50s F | Plaque | cT2c | N/A | N/A | 5 mo : ATM exon4 p.S99G 0.4%; SF3B1 exon16 p.R775G 15.49%; 8 mo : ATM 0.16%, SF3B1 11.05%; 9 mo : ATM 0.37%, SF3B1 6.11%; 11 mo : ATR 4.7%, SF3B1 5.2% | Mets at 18 mo |
AJCC, American Joint Committee on Cancer; ctDNA, circulating tumor DNA; enuc, enucleation; mets, metastasis; tx, treatment; VAF, variant allele frequency.