Table 2. Concordance between the molecular characteristics of the primary tumour and matched lung metastases by NGS.
| Patient no. | Stage at diagnosis | Genes containing alterations (mutations, insertions or deletions) | All samples concordant | |||||
|---|---|---|---|---|---|---|---|---|
| Primary tumour | 1st pulmonary metastasis | 2nd pulmonary metastasis | 3rd pulmonary metastasis | 4th pulmonary metastasis | Other metastasis | |||
| 002 | T4 N0 M0 | APC, KRAS, PIK3CA | APC, KRAS, PIK3CA | No variants detected | - | - | - | No1 |
| 005 | T3 N0 M0 | FBXW7 | FBXW7 | - | - | - | FBXW7 | Yes |
| 007 | T2 N1 M0 | TP53, ARID1A | TP53, ARID1A | - | - | - | - | Yes |
| 011 | T3 N2 M0 | APC, KRAS, TP53, FBXW7 | APC, KRAS, TP53, FBXW7 | - | - | - | - | Yes |
| 019 | T3 N0 M0 | NRAS, PIK3CA, PTEN, SMAD4 | NRAS, PIK3CA, PTEN, SMAD4 | - | - | - | - | Yes |
| 021 | T2 N0 M0 | No sample available | APC, KRAS | APC, KRAS | - | - | - | Yes |
| 025 | T3 N1 M0 | APC, KRAS | APC, KRAS | - | - | - | - | Yes |
| 032 | T3 N1 M0 | APC, KRAS, TP53, CTNNB1, NOTCH3 | APC, KRAS, TP53, CTNNB1, NOTCH3 | - | - | - | - | Yes |
| 0332 | T2 N0 M0 | No sample available | APC, KRAS, FBXW7 | APC, KRAS, FBXW7 | APC, KRAS, FBXW7 | APC, KRAS, FBXW7 | - | Yes |
| 037 | T1 N1 M0 | APC (2 mutations), KRAS, PIK3CA, TP53 | APC (1 APC deletion not detected), KRAS, PIK3CA, TP53 | - | - | - | - | No1 |
| 0382 | T3 N2 M0 | No sample available | APC, BRAF, TP53, CDKN2B | APC, BRAF, TP53,CDKN2B | - | - | - | Yes |
| 040 | T3 N1 M0 | APC, KRAS | APC, KRAS | - | - | - | APC, KRAS | Yes |
| 041 | T3 N1 M0 | APC, TP53, ATM, CTNNB1 | APC, TP53, ATM, CTNNB1 | APC, TP53, ATM, CTNNB1 | - | - | - | Yes |
| 045 | T4 N0 M1 | APC | No variants detected | - | - | - | - | No1 |
| 050 | T3 N2 M0 | APC, KRAS, TP53, TCF7L2 | APC, KRAS, TP53, TCF7L2 | - | - | - | - | Yes |
| 051 | T3 N0 M0 | APC, KRAS, PIK3CA, TP53, AKT1, SMAD4, TCF7L2 | APC, KRAS, TP53, TCF7L2 (AKT1, PIK3CA, SMAD4 mutations not detected) | - | - | - | - | No1 |
| 052 | T2 N0 M1 | KRAS, NRAS, PIK3CA, TP53, CTNNB1 | KRAS, NRAS, PIK3CA, TP53, CTNNB1 | - | - | - | - | Yes |
| 056 | T3 N1 M0 | No variants detected | No variants detected | No variants detected | - | - | - | Yes |
| 0632 | T3 N2 M0 | No sample available | APC, TP53 | APC, TP53 | - | - | - | Yes |
1ddPCR for PIK3CA and KRAS on the 2nd pulmonary metastasis sample for patient 002 detected low frequency mutations in these genes. ddPCR was not performed for APC in patient 002 or the other discordant samples as probes were not available for the other variants. Discordant results are likely to be due to low tumour content of these samples. 2Patients 033, 038, and 063 had bilateral pulmonary metastases. 033: 1st pulmonary metastasis = left lung, 2nd pulmonary metastasis = right lung, 3rd pulmonary metastasis = left lung (2nd resection), 4th pulmonary metastasis = right lung (2nd resection). 038 and 063: 1st pulmonary metastasis = left lung, 2nd pulmonary metastasis = right lung.