Table 1.
Summary of the top 5 mutations in pseudomyxoma peritonei
| References | Cases | Gene panel | Gene mutation rates (%) | ||||||
|---|---|---|---|---|---|---|---|---|---|
| KRAS | GNAS | KRAS + GNAS | TP53 | SMAD4 | APC | PI3CA | |||
| Tokunaga et al. (2019) | 183 | 592 | 55.0 | 31.0 | NA | 40.0 | 16.0 | 10.0 | 6.0 |
| Pengelly et al. (2018) | 5 | 54 | 100.0 | 100.0 | 100.0 | NA | 10.0 | 10.0 | NA |
| Gleeson et al. (2018) | 19–31a | 47 | 80.6 | 73.7 | 87.0 | 5.0 | 16.0 | 11.0 | 10.0 |
| Saarinen et al. (2017) | 9 | Whole exome | 100.0 | 55.6 | 55.6 | NA | NA | NA | NA |
| Borazanci et al. (2017) | 116–396a,b | 47 | 57.3 | 28.2 | NA | 23.4 | 16.2 | 10.7 | 5.3 |
| Pietrantonio et al. (2016a, b) | 40 | 50 | 72.0 | 52.5 | NA | 12.5 | 2.5 | NA | 7.5 |
| Nummela et al. (2015) | 19 | 48 | 100.0 | 63.2 | NA | 5.3 | 15.3 | 0.0 | 5.3 |
| Noguchi et al. (2015) | 18 | 50 | 77.8 | 44.4 | NA | 22.2 | 16.7 | NA | 11.1 |
| Sio et al. (2014) | 10 | 236 | 70.0 | 40.0 | 40.0 | NA | NA | NA | NA |
| Liu et al. (2014) | 35 | 50 | 42.9 | 25.7 | NA | 20.0 | 14.3 | 22.9 | 5.7 |
| Alakus et al. (2014) | 29 | NA | 89.7 | 70.0 | NA | 0.0 | NA | NA | 0.0 |
| Singhi et al. (2014) | 55 | 2 | 40.0 | 31.0 | NA | NA | NA | NA | NA |
| Nishikawa et al. (2013) | 35 | 2 | 94.3 | 45.7 | 42.9 | NA | NA | NA | NA |
| Range | NA | NA | 40.0–100.0 | 25.7–100.0 | 40.0–100.0 | 0–40.0 | 2.5–16.7 | 0–22.9 | 0–11.1 |
| Median | NA | NA | 77.8 | 45.7 | 55.6 | 16.3 | 15.7 | 10.4 | 5.9 |
NA not available
aNumber of patients varied by different genes detected
bPatients with neuroendocrine tumors of appendix were excluded