Table 1.
Next-generation sequencing of different tissue types in this patient
| Genetic finding | Colon tumor biopsy | Ascites fluid cell block | Liquid biopsy | |
|---|---|---|---|---|
| ALK | EML4-ALK fusion (E21; A20) | Present | Present | Present L1319V (VUS*) |
| KRAS | Q61H | Not detected | Not detected | 0.32% |
| Amplification | Not detected | Present | Not detected | |
| TP53 | Splice site 783–2A>G | Present (32.8%) | Present (3.75%) | Present (39.1%) |
| NF1 | Q20 | Not detected | Not detected | 0.71% |
| GATA6 | Amplification | Present | Not detected | Not tested |
| KDM6A | Splice site 443+2T>C | Present | Not detected | Not tested |
| NOTCH2 | Truncation intron 22 | Present | Not detected | Not tested |
| Tumor mutational burden | Low (5 Muts/Mb) | Can not be determined | Not tested | |
| Microsatellite status | MS-stable | MSI-can not be determined | Not tested | |
*
VUS, variants of unknown significance.