Table 1 Results of next-generation sequencing analysis
Gene | Mutations | Abundance (%) | ||
|---|---|---|---|---|
Adenoma | NEC | SCC | ||
KRAS | c.436G>A (p.A146T) | 25.5 | 28.3 | 31.7 |
BRCA1 | c.4987-2A>G | 45.3 | 34.2 | 27.7 |
CDK4 | Copy number amplification | - | CN: 4.6 | - |
TP53 | c.159G>A (p.W53*) | 41.6 | 85.2 | 79.8 |
APC | c.3964G>T (p.E1322*) | 52.3 | 94.0 | 78.3 |
FBXW7 | c.217C>T (p.Q73*) | 27.6 | 47.5 | 37.3 |
FBXW7 | c.372+1G>A | 26.4 | 44.2 | 32.4 |
RB1 | c.1963dup (p.Y655Lfs*13) | - | 67.3% | 71.2% |
RNF43 | c.131del (p.Q44Rfs*7) | 25.5 | 52.1 | 53.6 |
FLT4 | c.1426C>T (p.R476W) | 28.9 | 49.6 | 52.5 |
KMT2B | c.74G>A (p.R25Q) | - | - | 22.7 |
MLH3 | c.484A>G (p.M162V) | 49.4 | 7.3 | 14.3 |
PDGFRB | c.886A>T (p.S296C) | 22.2 | 6.2 | 8.8 |
PKHD1 | c.11006C>T (p.S3669L) | 26.3 | 60.9 | 53.1 |
TMB | Mutations/Mbases | 6.2 | 8.2 | 10.3 |
Low < 10 | Low | Low | High | |
High ≥10 | ||||
Microsatellite | Stable | Stable | Stable | |