Table 1 Frequency of KIT codon 816 and 560 mutations in patients with mastocytosis
Reference | Büttner et al. [26] | Yanagihori et al. [27] | Garcia-Montero et al. [19] | Teodosio et al. [20] | Lanternier et al. [28] |
|---|---|---|---|---|---|
Country | Germany | Japan | Spain | Spain | France |
Number of patients studied | 17 | 16 | 113 | 123 | 142 |
Adults/children | 6/11 | 12/4 | 113/0 | 123/0 | 142/0 |
Males/females | NA | 12/4 | 58/55 | 66/57 | 43/93 |
CM/SM | 17 (100%)/0 (0%) | 16 (100%)/0 (0%) | 0 (0%)/113 (100%) | 0 (0%)/123 (100%) | 38 (27%)/104 (73%) |
Adult/childhood onset | 6 (35%)/11 (65%) | 4 (25%)/12 (75%) | NA/NA | NA/NA | 114 (80%)/28 (20%) |
Sample types tested | Skin | Skin | Bone marrow | Bone marrow | Skin |
Cell types tested | All cells | All cells | Mast cells | Mast cells | All cells |
KIT codon 816 mutations | 6/17 (35%) | 14/16 (88%) | 102/113 (90%) | 93/123 (6%) | 97/138 (70%) |
Adult onset | 6/6 (100%) | 4/4 (100%) | NA | NA | 86/112 (77%) |
Children onset | 0/11 (0%) | 10/12 (83%) | NA | NA | 11/26 (42%) |
KIT codon 560 mutations | 2/6 (33%) | 0/16 (0%) | 0/113 (0%) | 1/123 (0.8%) | 1/138 (0.7%) |
Adult onset | 2/4 (50%) | 0/4 (0%) | NA | NA | 1/112 (0.9%) |
Children onset | 0/2 (0%) | 0/12 (0%) | NA | NA | 0/26 (0%) |