Table 4. Mutations detected in biopsy and resection samples by PS and NGS.
| Mutation | Absolute number of mutations detected by PS | Detail | Absolute number of additional mutations detected by NGS | Detail (percentage mutated DNA) |
|---|---|---|---|---|
|
Biopsy (78 samples total) | ||||
| KRAS 12 | 27 | 2 × c.34G>A 1 × c.34G>T 12 × c.35G>A 2 × c.35G>C 10 × c.35G>T | 5 | 1 × c.34G>C (5%) 2 × c.35G>A (6%, 8%) 2 × c.35G>T (5%, 6%) |
| KRAS 13 | 3 | 3 × c.38G>A | 6 | 6 × c.38G>A (5%, 5%, 7%, 7%, 8%, 12%) |
| KRAS 61 | 0 | — | 0 | — |
| KRAS 146 | 5 | 5 × c.436G>A | 4 | 4 × c.436G>A (5%, 5%, 6%, 9%) |
| NRAS 12/13 | 2 | c.35G>A c.37G>C | 0 | — |
| NRAS 61 | 1 | c.181C>A | 0 | — |
| BRAF | 3 | NA | 0 | — |
| PIK 542 | 5 | 5 × c.1624G>A | 1 | 1 × c.1624G>A (5%) |
| PIK 545/546 | 5 | 3 × c.1633G>A 1 × c.1636C>A 1 × c.1637A>C | 3 | 2 × c.1633G>A (5%, 10%) 1 × c.1636C>A (5%) |
| PIK 1047 | 1 | c.3140A>G | 2 | c.3139C>T (6%) c.3140A>G (7%) |
| Total | 52 | 21 | ||
| Number of patients with RAS (KRAS or NRAS) mutation by PS 37 (47%) | ||||
| Number of patients with RAS (KRAS or NRAS) mutation by PS or NGS 44 (56%) | ||||
| Number of patients with EGFR pathway mutation (KRAS, NRAS, BRAF or PIK3CA) by PS 45 (58%) | ||||
| Number of patients with EGFR pathway mutation (KRAS, NRAS, BRAF or PIK3CA) by PS or NGS 50 (64%) | ||||
|
Resection (54 samples total) | ||||
| KRAS 12 | 24 | 1 × c.34G>A 2 × c.34G>T 13 × c.35G>A 1 × c.35G>C 7 × c.35G>T | 3 | 2 × c.34G>C (14%, 25%) c.35G>C (7%) |
| KRAS 13 | 3 | 3 × c.38G>A | 0 | — |
| KRAS 61 | 0 | — | 0 | — |
| KRAS 146 | 2 | 2 × c.436G>A | 3 | 3 × c.436G>A (5%, 5%, 33%)a |
| NRAS 12/13 | 1 | c.37G>C | 0 | — |
| NRAS 61 | 1 | c.181C>A | 0 | — |
| BRAF | 0 | — | 0 | — |
| PIK 542 | 3 | 3 × c.1624G>A | 1 | c.1624G>A (5%) |
| PIK 545/546 | 0 | — | 1 | c.1633G>A (10%) |
| PIK 1047 | 1 | c.3140A>G | 0 | — |
| Total | 35 | 8 | ||
| Number of patients with RAS (KRAS or NRAS) mutation by PS 31 (57%) | ||||
| Number of patients with RAS (KRAS or NRAS) mutation by PS or NGS 33 (61%) | ||||
| Number of patients with EGFR pathway mutation (KRAS, NRAS, BRAF or PIK3CA) by PS 32 (59%) | ||||
| Number of patients with EGFR pathway mutation (KRAS, NRAS, BRAF or PIK3CA) by PS or NGS 33 (61%) | ||||
Abbreviations: NA=not applicable; NGS=next generation sequencing; PS=pyrosequencing.
a
One sample that was resection KRAS 146 mutated on PS was non-mutated on NGS.