Table 4.
Summary of Mutation Analysis in Sporadic ACC.
| Case | Genes | ||||||
|---|---|---|---|---|---|---|---|
| KIT | HRAS | KRAS | NRAS | BRAF | PIK3CA | PTEN | |
| 1 | — | — | — | — | N/A | — | — |
| 2 | — | nt81T → C (H27H) | nt50G → A (S17N) | — | — | — | — |
| 3 | — | — | — | — | — | — | — |
| 4 | — | — | — | — | — | nt2994C → T (F998F) | — |
| 5 | — | nt81T → C (H27H) | — | — | — | — | — |
| 6 | — | nt81T → C (H27H) | — | — | — | — | — |
| 7 | — | — | — | — | — | — | — |
| 8 | — | — | — | — | — | — | — |
| 9 | nt1990G → A (G664R) | — | — | — | — | — | — |
| 10 | nt2386A → G (R796G) | — | — | N/A | N/A | N/A | N/A |
| 11 | — | nt81T → C (H27H) | — | — | nt1768G → A (V590I) | — | — |
| 12 | — | nt81T → C (H27H) | — | N/A | — | nt318C → A (G106G) | — |
| 13 | — | — | — | — | — | — | — |
| 14 | — | nt81T → C (H27H) | — | — | — | — | — |
| 15 | — | — | — | nt57G → A (L19L) | — | — | — |
| 16 | — | nt81T → C (H27H) | — | — | — | N/A | — |
| 17 | — | nt81T → C (H27H) | — | — | — | — | — |
Four missense mutations in three different genes within the c-Kit RTK signaling pathway, namely KIT, KRAS, and BRAF, were found. All of these ACC mutations caused amino acid changes in the resultant proteins.