Table 3.
Mutations in colorectal neoplasms.
| Entity | AC | MiNEN | MiNEN | NEC | NEC | Combined large cell neuroendocrine carcinoma and squamous cell carcinoma |
|---|---|---|---|---|---|---|
| Source | TCGA, 2012 | Woischke et al, 2017 | Jesinghaus et al, 2017 | Woischke et al, 2017 | Jesinghaus et al, 2017 | Present study |
| Number of cases | 269 | 6 | 19 | 4 | 8 | 2 |
| Mutations | ||||||
| AKT1 | 0 | 0 | 25 | 0 | ||
| APC | 61 | 83 | 16 | 75 | 63 | 0 |
| ATM | 4 | 0 | 14 | 50 | 0 | |
| BRAF | 8 | 16 | 37 | 25 | 25 | 0 |
| CTNNB1 | 1 | (1 out of 2 cases) | ||||
| EGFR | 2 | 16 | 25 | 0 | ||
| ERBB4 | 0 | 0 | 25 | 0 | ||
| FBXW7 | 12 | 16 | 16 | 25 | (2 out of 2 cases) | |
| FGFR2 | 0 | 0 | 25 | 0 | ||
| FLT3 | 5 | 0 | 25 | 0 | ||
| GNAS | 0 | 0 | 25 | 0 | ||
| HRAS | 0 | 0 | 25 | 0 | ||
| IDH1 | 0 | 16 | 0 | 0 | ||
| IDH2 | 1 | 0 | 25 | 0 | ||
| JAK2 | 1 | 0 | 25 | 0 | ||
| KDR | 0 | 16 | 25 | 0 | ||
| KRAS | 35 | 83 | 21 | 100 | 25 | 0 |
| MET | 0 | 33 | 50 | 0 | ||
| NOTCH1 | 0 | 33 | 25 | 0 | ||
| PIK3CA | 16 | 50 | 5 | 25 | (1 out of 2 cases) | |
| PTEN | 5 | 0 | 11 | 0 | 0 | |
| PTPN11 | 1 | 0 | 25 | 0 | ||
| RB1 | 1 | 16 | 50 | (1 out of 2 cases) | ||
| RET | 0 | 33 | 0 | 0 | ||
| SMAD4 | 10 | 0 | 5 | 25 | 0 | |
| SMO | 0 | 0 | 25 | 0 | ||
| TP53 | 45 | 100 | 47 | 75 | 63 | 0 |
| VHL | 0 | 16 | 25 | 0 |
Frequencies of genetic alterations (in percent) of colorectal adenocarcinomas (AC), MiNENs, neuroendocrine carcinomas (NEC) in three studies (The Cancer Genome Atlas Program 2012 (TCGA, [16]), Jesinghaus et al [48] and Woischke et al [47]) in comparison with the genetic alterations of the two cases of mixed large cell neuroendocrine carcinoma and squamous cell carcinoma. Regarding TCGA cases, only putative driver mutations are included. Frequencies are highlighted by a coloured scale ranging from 0% (yellow) to 100%, or out of two for the category of mixed large cell neuroendocrine carcinoma and squamous cell carcinoma (green).