Table 1.
Results of DNA and RNA NGS in the five samples of the patient with our 38/42 gene panel
| Date | mo | TCC | Fusion | SNV | CNV | Other |
|---|---|---|---|---|---|---|
| 04/2017 (baseline) | 0 | 20% | E20:A20a | None | None | None |
| 10/2017 (first rebiopsy) | 7 | 60% | E20:A20a | n/a (only RNA NGS, but no DNA NGS performed on this sample) | ||
| 07/2018 (second rebiopsy) | 15 | 90% | E20:A20a | ALK:p.V1180L (VAF 8%)b | None | TMB 3.91 mut/Mbb |
| 02/2019 (third rebiopsy) | 22 | 80% | E20:A20a | ALK:p.L1196M (VAF 17.2%) | CDKN2Adel | None |
| 03/2020 (fourth rebiopsy) | 34 | 50% | E20:A20a |
ALK:p.L1196M (VAF 22.2%) ALK:p.D1203N (VAF 6.4%) ALK:p.G1202R (VAF 15.9%) |
None | None |
aEML4-ALK E20:A20 (V2).
bAnalysis with the TSO500 panel showed the same ALK:p.V1180L SNV, as well as PALB2:p.E27* (ClinVar accession number SCV002571108), but no mutation or deletion in TP53 and RB1 (all exons and splice sites of both genes covered); the TMB was 3.91 mut/Mb.
(NGS) Next-generation sequencing, (mo) months after diagnosis, (TCC) tumor cell content, (SNV) single-nucleotide variants, (VAF) variant allele frequency, (CNV) copy-number variants, (TMB) tumor mutational burden.