Table 1.
KIT mutations other than D816V described in adult patients with systemic mastocytosis (SM).
| Domain | Exon | Mutation | Subtype SM |
|---|---|---|---|
| Extracellular: Ligand (SCF) binding domain | 2 | R49C | SM-u [29] |
| 5 | Y269C | SM-AHN [40] | |
| Extracellular: Dimerization domain | 7 | V399I | SM-u [29] |
| 8 | D419del | ISM [47] | |
| 9 | S451C | SM-u [61] | |
| S476I | MCL [48] | ||
| S501_A502dup | ASM [50] MCL [49] | ||
| A502_Y503dup | SM-u [29] MCL [51,52] | ||
| Y503_F504InsAY | ASM [40] | ||
| F504_N505delIns5 | SM-AHN [51] | ||
| K509R | SM-u [29] | ||
| K509I | ISM [62] ASM [53] MCL [62] WDSM [63] | ||
| Transmembrane domain |
10 | F522C | WDSM [32,54,55] MCL [46] |
| Juxta-membrane domain |
11 | V559I | ASM [56] |
| V560G | SM-u [40] ISM [57] MCL [58] | ||
| TK1 domain |
13 | K642E | ASM [29,40] |
| V654A | MCL [59] | ||
| TK2 domain |
17 | A814S | SM-AHN [26] |
| A814T | SM-AHN [27] | ||
| I815-V816Ins | ISM [9] | ||
| D816H | AdvSM [32,33] SM-AHN [26,34,35,36] MCL [46,67,68] | ||
| D816Y | ISM [37] AdvSM [32,33] SM-AHN [26,27,36,38,39] MCL [9,46] | ||
| D816I | SM-AHN [40] | ||
| D816A | SM-AHN [41,45] ASM [42] | ||
| D816G | MCL [43] | ||
| D816T | SM-u [44] | ||
| I817V | WDSM [9] | ||
| D820G | ASM [28] | ||
| N822K | SM-u [30] SM-AHN [31] | ||
| 18 | V852G | SM-u [29] |
Abbreviations: AdvSM: advanced systemic mastocytosis (SM); ASM: aggressive SM; ISM: indolent SM; MCL: mast cell leukaemia; SM-AHN: SM with an associated haematological neoplasm; SM-u: SM unclassified; WDSM: well-differentiated SM.