Table 3. Mutations in KIT D816V, epigenetic regulators and other molecules detected in Mastocytosis.
| No. of Patients | KIT D816V mutations | TET2 mutations | ASXL1 mutations | DNMT3A mutations | SRSF2 mutations | CBL mutations | EZH2 mutations | RAS mutations | RUNX1 mutations | JAK mutations | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|
| n = 48 | 20% | 29% | N.D. | N.D. | N.D. | N.D. | N.D. | N.D. | N.D. | N.D. | Tefferi et al.42 |
| n = 26 | 38.4% | 23% | 12% | 11.5% | N.D. | 3.8% | 0% | N.D. | N.D. | N.D. | Traina et al.53 |
| n = 74 | 78.4% | 20.3% | N.D. | N.D. | N.D. | N.D. | N.D. | N.D. | N.D. | N.D. | Soucie et al.55 |
| n = 62 | 87% | 27% | 14% | N.D. | N.D. | 11% | N.D. | N.D. | N.D. | 13% | Damaj et al.56 |
| n = 39 | 100% | 39% | 20% | N.D. | 35.8% | 20% | 5.1% | 15.3% | 23% | 5.1% | Schwaab et al.43 |
| n = 72 | 81% | 21% | N.D. | 12% | 23.6% | N.D. | N.D. | N.D. | N.D. | N.D. | Hanssens et al.59 |
| n = 44 | 100% | N.D. | N.D. | N.D. | N.D. | N.D. | N.D. | 4.5% | N.D. | N.D. | Wilson et al.54 |
Less frequent Mutations in U2AF1 (5.1%), ETV6 (2.5%), SETBP1 (2.5%) have been reported by Schwaab et. al; and mutations in SF3BP1 (5.6%) and U2AF1 (2.7%) have been reported by Hanssens et.al. Mutations in IDH1, IDH2 have not been detected in studies reported thus far. RAS mutations denote total mutations identified in both KRAS and NRAS. N.D. signifies “Not Determined”. NOTE: Mutations represented above includes total (%) of those present alone (ex. KIT D816V), and with other mutations (ex. KIT D816V + TET2).