Table 1.
Patients cohort and PIK3CA mutations per pathology
| Pathology | LM | LVM | CLM | CLVM | KTS | CLOVES | PROS | UVA | All |
|---|---|---|---|---|---|---|---|---|---|
| Cohort | 105 | 3 | 1 | 7 | 4 | 14 | 7 | 2 | 143 |
| Mutation | 78 | 3 | – | 6 | 4 | 12 | 5 | – | 108 |
| No mutation | 19 | – | 1 | 1 | – | 2 | 2 | 2 | 27 |
| Inconclusive | 8 | – | – | – | – | – | – | – | 8 |
| % with a mutation | 74.3% | 100% | 0% | 85.7% | 100% | 85.7% | 71.4% | 0% | 75.5% |
| VAF median | 3.71 | 4.59 | – | 7.34 | 8.12 | 12.90 | 11.09 | – | 4.05 |
| Standard deviation | 4.49 | 2.52 | – | 6.53 | 6.27 | 7.30 | 5.65 | – | 4.85 |
| VAF range | 0.54–11.34 | 3.43–8.25 | – | 4.71–22.19 | 1.15–13.17 | 2.00–25.33 | 1.00–13.00 | – | 0.54–25.33 |
| Hotspot mutations | 74 | 3 | 0 | 6 | 3 | 5 | 1 | 0 | 92 |
| Non-hotspot mutations | 4 | 0 | 0 | 0 | 1 | 7 | 4 | 0 | 16 |
| PIK3CA Domain | Mutation | LM | LVM | CLM | CLVM | KTS | CLOVES | PROS | UVA | All |
|---|---|---|---|---|---|---|---|---|---|---|
| ABD | F83S | 1 | 1 | |||||||
| ABD | P104L | 1 | 1 | |||||||
| E110del | 1 | 1 | 2 | |||||||
| G118D | 1 | 1 | ||||||||
| Y165C | 1 | 1 | ||||||||
| C2 | C420R | 1 | 1 | |||||||
| C2 | E453K | 1 | 1 | |||||||
| E494K | 1 | 1 | ||||||||
| Helical | E542K | 26 | 3 | 1 | 1 | 31 | ||||
| Helical | E545K | 27 | 3 | 3 | 1 | 34 | ||||
| Helical | E545G | 1 | 1 | |||||||
| Helical | Q546K | 2 | 2 | |||||||
| Helical | Q546R | 1 | 1 | |||||||
| E76K | 1 | 1 | ||||||||
| Kinase | G914R | 1 | 1 | |||||||
| Kinase | Y1021H | 1 | 1 | |||||||
| Kinase | T1025A | 1 | 1 | |||||||
| Kinase | H1047R | 17 | 3 | 3 | 23 | |||||
| Kinase | H1047L | 3 | 3 |
Bold: hotspot mutations. Protein domains based on https://www.uniprot.org/uniprot/P42336: ABD, p85α-binding domain (amino acids 16–105); C2, C2-PIK3C-type domain (330–487); Helical, Helical domain (517–694); Kinase, Kinase domain (797–1068). See also Fig. 2