Table 2.
Genomic changes detected in cfDNA after relapse during lorlatinib therapy
| Gene | Chromosome | HGVS DNA reference | HGVS protein reference | Variant type | Predicted effect | dbSNP/dbVar ID | Genotype | ClinVar ID |
|---|---|---|---|---|---|---|---|---|
| ALK | Chr 2:29220829 (GRCh38.p12) | NC_000002.12:g.29220829G > C | NP_004295.2:p.Phe1174Leu | Missense | Substitution | rs863225281 | 31.1% cfDNA | VCV000217852.1 |
| PIK3CA | Chr 3:179221045 (GRCh38.p12) | NC_000003.12:g.179221045del | NP_006209.2: p.Cys692Phefs*8 | Single-base pair deletion | Frameshift | 37.5% cfDNA | VCV000988765.1 | |
| NRAS | Chr 1:114713909 (GRCh38.p12) | NC_000001.11:g.114713909G > T | NP_002515.1: p.Gln61Lys | Missense | Substitution | rs863225281 | 0.4% cfDNA | VCV000073058.5 |
| CDK4 | Chr 12:57,747,255–57,752,919 (GRCh38.p13) | NC_000012.12:57,747,255–57,752,919 | NP_000066.1 | Gene amplification | Plasma copy number: 17.6 | |||
| FGFR1 | Chr 8: 38,411,143–38,468,635 (GRCh38.p13) | NC_000008.11:38,411,143–38,468,635 | NP_001167534.1 | Gene amplification | Plasma copy number 14.4 |
(cfDNA) Cell-free tumor DNA.