Patients’ characteristics of the discovery and validation cohort
| . | Discovery cohort . | Validation cohort . | P . | |||||
|---|---|---|---|---|---|---|---|---|
| Disease subtype . | All patients (n = 180) . | All patients (n = 61) . | ||||||
| CM (n = 16) . | MIS (n = 5) . | ISM (n = 118) . | SSM (n = 10) . | Advanced SM (n = 31) . | ||||
| Age, median (range), y | 38 (11-76) | 35 (26-48) | 46 (18-82) | 48 (19-73) | 60 (21-90) | 48 (11-91) | 49 (23-71) | .50 |
| Sex, female/male, n | 11/5 | 4/1 | 69/49 | 5/5 | 9/22 | 98/82 | 35/26 | .77 |
| Mast cell infiltration (% BM histology), median (range) | NA | NA | 10 (0-50) | 30 (10-80) | 15 (1-70) | 10 (0-80) | NA | n.t. |
| KIT D816V mutation, n (% positive) | 11/16 (68.8) | 3/5 (60) | 113/116 (97.4) | 9/10 (90.0) | 23/30 (76.7)* | 160/177 (90.4) | 40/50 (80.0) | .08 |
| KIT D816V mutant allele burden, median (range), % | 0.03 (0.004-0.54) | 0.03 (0.025-0.18) | 0.18 (0.002-46.9) | 0.11 (0.016-35.4) | 2.05 (0.005-46.7) | 0.18 (0.002-46.9) | NA | n.t. |
| Serum tryptase level, median (range), µg/L | 7.4 (3.2-23.3) | 11.3 (5.8-21.9) | 35.7 (5.3-938) | 313.3 (153-1090) | 89.3 (1.8-1617) | 36.6 (1.8-1617) | 39 (6.57-163) | .82 |
| α-Tryptase encoding TPSAB1 gain, n (% positive) | 2/16 (12.5) | 1/5 (20) | 22/118 (18.6) | 2/10 (20.0) | 4/31 (12.9) | 31/180 (17.2) | 13/61 (21.3) | .57 |
| . | Discovery cohort . | Validation cohort . | P . | |||||
|---|---|---|---|---|---|---|---|---|
| Disease subtype . | All patients (n = 180) . | All patients (n = 61) . | ||||||
| CM (n = 16) . | MIS (n = 5) . | ISM (n = 118) . | SSM (n = 10) . | Advanced SM (n = 31) . | ||||
| Age, median (range), y | 38 (11-76) | 35 (26-48) | 46 (18-82) | 48 (19-73) | 60 (21-90) | 48 (11-91) | 49 (23-71) | .50 |
| Sex, female/male, n | 11/5 | 4/1 | 69/49 | 5/5 | 9/22 | 98/82 | 35/26 | .77 |
| Mast cell infiltration (% BM histology), median (range) | NA | NA | 10 (0-50) | 30 (10-80) | 15 (1-70) | 10 (0-80) | NA | n.t. |
| KIT D816V mutation, n (% positive) | 11/16 (68.8) | 3/5 (60) | 113/116 (97.4) | 9/10 (90.0) | 23/30 (76.7)* | 160/177 (90.4) | 40/50 (80.0) | .08 |
| KIT D816V mutant allele burden, median (range), % | 0.03 (0.004-0.54) | 0.03 (0.025-0.18) | 0.18 (0.002-46.9) | 0.11 (0.016-35.4) | 2.05 (0.005-46.7) | 0.18 (0.002-46.9) | NA | n.t. |
| Serum tryptase level, median (range), µg/L | 7.4 (3.2-23.3) | 11.3 (5.8-21.9) | 35.7 (5.3-938) | 313.3 (153-1090) | 89.3 (1.8-1617) | 36.6 (1.8-1617) | 39 (6.57-163) | .82 |
| α-Tryptase encoding TPSAB1 gain, n (% positive) | 2/16 (12.5) | 1/5 (20) | 22/118 (18.6) | 2/10 (20.0) | 4/31 (12.9) | 31/180 (17.2) | 13/61 (21.3) | .57 |
NA, not available; n.t., not tested.
One additional patient was tested positive for KIT D816H.