Table 1.
Summary of KIT mutations in cancers.
| Site | Exon | Disease | Description |
|---|---|---|---|
| Immunoglobulin-like domain | 8 | AML | T417, Y418, D419 |
| 9 | GIST | A502 | |
| Mastocytosis | K5091 | ||
| Trans-membrane domain | 10 | AML | V530I |
| Mastocytosis | F522C, A533D | ||
| Juxta-membrane domain | 11 | AML | V560, V559, ITD |
| GIST | CD117, V559A, V559D, W557R, V560G | ||
| Melanoma | L576P | ||
| Mastocytosis | V560G | ||
| 13 | AML | K642E | |
| Melanoma | K642E | ||
| 14 | GIST | K704, N705 | |
| Kinase insert | 15 | GIST | S715 |
| Kinase domain | 16 | AML | 1748T, L773S |
| 17 | AML | D816V, D816Y, D816F, D816H, N822, V8251 | |
| Germ cell tumor | D816H, D816V | ||
| Mastocytosis | D816V, D816Y, D816H, D820G | ||
| ENKL | V825A, D816N |
Abbreviations: AML: acute myeloid leukemia, GIST: gastrointestinal stromal tumor, ENKL: extranodal NK/T cell lymphoma.