Patients’ characteristics of the mastocytosis cohort
| Discovery cohort . | CM/MIS (n = 5) . | ISM/SSM (n = 24) . | AdvSM (n = 11) . | All patients (n = 40) . |
|---|---|---|---|---|
| Age (y; median, range) | 32 (23-55) | 53 (23-82) | 64 (50-74) | 54 (23-82) |
| Sex (number; female/male) | 3/2 | 14/10 | 5/6 | 22/18 |
| KIT D816V mutation (number and % positive) | 4/5 (80.0%) | 21/22 (95.5%) | 9/11 (81.8%)∗ | 34/38 (89.5%)∗ |
| KIT D816V allele burden (%; median, range) | 0.06 (0.034-0.14) | 0.14 (0.009-9.09) | 15.17 (0.002-46.9) | 0.14 (0.002-46.9) |
| TNF† (pg/mL; median, range) | 1.54 (1.05-2.57) | 2.13 (0.48-11.73) | 2.96 (1.09-16.64) | 2.06 (0.48-16.64) |
| Validation cohort | CM/MIS (n = 13) | ISM/SSM (n = 94) | AdvSM (n = 35) | All patients (n = 142) |
| Age (y; median, range) | 45 (20-70) | 47 (20-75) | 63 (25-91) | 50 (20-91) |
| Sex (number; female/male) | 9/4 | 54/40 | 11/24 | 74/68 |
| KIT D816V mutation (number and % positive) | 4/9 (44.4%)‡ | 83/87 (95.4%) | 25/34 (73.5%) | 112/130 (86.2%)‡ |
| KIT D816V allele burden (%; median, range) | 0.27 (0.004-0.54) | 0.15 (0.002-46.6) | 2.05 (0.006-46.7) | 0.255 (0.002-46.7) |
| TNF† (pg/mL; median, range) | 0.67 (0.19-5.41) | 0.81 (0.13-15.65) | 1.3 (0.33-18.89) | 0.86 (0.13-18.89) |
| Discovery cohort . | CM/MIS (n = 5) . | ISM/SSM (n = 24) . | AdvSM (n = 11) . | All patients (n = 40) . |
|---|---|---|---|---|
| Age (y; median, range) | 32 (23-55) | 53 (23-82) | 64 (50-74) | 54 (23-82) |
| Sex (number; female/male) | 3/2 | 14/10 | 5/6 | 22/18 |
| KIT D816V mutation (number and % positive) | 4/5 (80.0%) | 21/22 (95.5%) | 9/11 (81.8%)∗ | 34/38 (89.5%)∗ |
| KIT D816V allele burden (%; median, range) | 0.06 (0.034-0.14) | 0.14 (0.009-9.09) | 15.17 (0.002-46.9) | 0.14 (0.002-46.9) |
| TNF† (pg/mL; median, range) | 1.54 (1.05-2.57) | 2.13 (0.48-11.73) | 2.96 (1.09-16.64) | 2.06 (0.48-16.64) |
| Validation cohort | CM/MIS (n = 13) | ISM/SSM (n = 94) | AdvSM (n = 35) | All patients (n = 142) |
| Age (y; median, range) | 45 (20-70) | 47 (20-75) | 63 (25-91) | 50 (20-91) |
| Sex (number; female/male) | 9/4 | 54/40 | 11/24 | 74/68 |
| KIT D816V mutation (number and % positive) | 4/9 (44.4%)‡ | 83/87 (95.4%) | 25/34 (73.5%) | 112/130 (86.2%)‡ |
| KIT D816V allele burden (%; median, range) | 0.27 (0.004-0.54) | 0.15 (0.002-46.6) | 2.05 (0.006-46.7) | 0.255 (0.002-46.7) |
| TNF† (pg/mL; median, range) | 0.67 (0.19-5.41) | 0.81 (0.13-15.65) | 1.3 (0.33-18.89) | 0.86 (0.13-18.89) |
CM, cutaneous mastocytosis; MIS, mastocytosis in the skin; SSM, smoldering SM.
One additional patient tested positive for KIT D816H.
Different generations of the TNF ELISA had to be applied for the discovery and the validation cohort, showing slightly lower absolute overall levels in the validation cohort but difference well comparable relative to the respective matched healthy controls.
One additional patient was tested positive for KIT V560A.