Variables
n (%)
Patients with dabrafenib
Test cohort
Validation cohort
P-values*
Total patients 370 11 146 213
Gender
Male 230 (62.2) 5 (45.5) 88 (60.3) 137 (64.3) 0.439
Female 140 (37.8) 6 (54.5) 58 (39.7) 76 (35.7)
Age (years)
Median (age) 3.1 (0.1-15.1) 0.7 (0.1-2.1) 2.6 (0.1-11.6) 4.4 (0.1-15.1) < 0.001
≥ 2 245 (66.2) 1 (9.1) 86 (58.9) 158 (74.2) 0.003
< 2 125 (33.8) 10 (90.9) 60 (41.1) 55 (25.8)
Disease extents
SS 224 (60.5) 0 84 (57.5) 140 (65.7) 0.106
MS RO 95 (25.7) 4 (36.4) 38 (26) 53 (24.9)
MS RO+ 51 (13.8) 7 (63.6) 24 (16.4) 29 (9.4)
Involvement
Bone
No 32 (8.6) 6 (54.5) 18 (12.3) 8 (3.8) 0.003
Yes 338 (91.4) 5 (45.5) 128 (87.7) 205 (96.2)
Skin
No 296 (80) 0 110 (75.3) 186 (87.3) 0.005
Yes 74 (20) 11 (100) 36 (24.7) 27 (12.7)
Liver
No 327 (88.4) 5 (45.5) 125 (85.6) 197 (92.5) 0.051
Yes 43 (11.6) 6 (54.5) 21 (14.4) 16 (7.5)
Spleen
No 343 (92.7) 6 (54.5) 133 (91.1) 204 (91.1) 0.077
Yes 27 (7.3) 5 (45.5) 13 (8.9) 9 (4.2)
Hematologic
No 344 (93) 6 (54.5) 135 (92.5) 203 (95.3) 0.264
Yes 26 (7) 5 (45.5) 11 (7.5) 10 (4.7)
Lung
No 311 (84.1) 6 (54.5) 120 (82.2) 185 (86.9) 0.233
Yes 59 (15.9) 5 (45.5) 26 (17.8) 28 (13.1)
Lymph node
No 329 (88.9) 9 (81.8) 131 (89.7) 189 (88.7) 0.864
Yes 41 (11.1) 2 (18.2) 15 (10.3) 24 (11.3)
Pituitary
No 350 (98.6) 7 (63.6) 138 (94.5) 205 (96.2) 0.447
Yes 20 (5.4) 4 (36.4) 8 (5.5) 8 (3.8)
Ear
No 347 (93.8) 11 (100) 134 (91.8) 202 (94.8) 0.276
Yes 23 (6.2) 0 12 (8.2) 11 (5.2)
Eye
No 359 (97.0) 11 (100) 142 (97.3) 206 (96.7) 1.000
Yes 11 (3.0) 0 4 (2.7) 7 (3.3)
MAPK pathway gene mutations in tissue lesions MAPK pathway gene mutations in tissue lesions MAPK pathway gene mutations in tissue lesions
Evaluable patients 311 11 105 195
BRAF-V600E 172 (55.3) 11 (100) 62 (59.0) 99 (50.8) < 0.001
MAP2K1 56 (18.0) 0 6 (5.7) 50 (25.6)
BRAF-others 29 (9.3) 0 9 (8.6) 20 (10.3)
Others 54 (17.4) 0 28 (26.7) 26 (13.3)
BRAF-V600E in plasma cell-free DNA BRAF-V600E in plasma cell-free DNA
Evaluable patients 313 10 119 184
Negative 209 (66.8) 0 72 (60.5) 137 (74.5) 0.011
Positive 104 (33.2) 10 (100) 47 (39.5) 47 (25.5)