Summary of patient characteristics
| UPN . | Stage . | Risk . | Age, y at diagnosis . | Sex . | Site . | Gene . | Amino acid . |
|---|---|---|---|---|---|---|---|
| MB0375 | SS | — | 8.1 | M | Bone (femur) | BRAF | p.N486_P490del |
| MB0781 | SS | — | 3.2 | M | Bone (frontal) | BRAF | p.N486_P490del |
| A2570 | SS | — | 49.0 | M | Mucosae (oral and gingival) | BRAF | p.V600E |
| MB0347 | SS | — | 4.5 | F | Bone (pelvis) | MAP2K1 | p.E102_I103del |
| MB0064 | SS | — | 1.9 | M | Bone (orbit) | MAP2K1 | p.F53_Q58delinsL |
| MB0099 | SS | — | 3.0 | M | Bone (orbit) | MAP2K1 | p.F53_Q58delinsL |
| MB1072 | SS | — | 0.1 | M | Skin | MAP2K1 | p.K57T |
| MB0141 | SS | — | 0.9 | M | Bone (orbit) | MAP2K1 | p.Q58_E62del |
| MB0360 | SS | — | 4.5 | M | Bone (orbit) | MAP2K1 | p.Q58_E62del |
| A8035 | MS | RO− | 39.0 | M | Bone, DI | BRAF | p.V600E |
| MB0225 | MS | RO− | 16.4 | M | Lung, DI | BRAF | p.N486_P490del |
| MB0265 | MS | RO− | 3.5 | F | Skin, bone, lung | BRAF | p.N486_P490del |
| MB0276 | MS | RO− | 40.6 | M | Skin, DI | BRAF | p.N486_P490del |
| MB0352 | MS | RO− | 36.3 | M | Mulitfocal bone (mastoid, mandible, tibia, orbit), skin, kidney, nodes, DI | BRAF | p.V600E |
| MB0392 | MS | RO− | 4.7 | M | Bone, DI, ND-LCH | BRAF | p.V600E |
| MB0507 | MS | RO− | 0.5 | M | Multifocal bone (skull, tibia and pelvis), skin | BRAF | p.V600E |
| MB0165 | MS | RO− | 23.5 | M | Skin, bone, DI | ERBB3 | p.P921Q |
| MB0743 | MS | RO− | 1.4 | M | Multifocal bone (orbit, skull, mandible), skin, nodes | MAP2K1 | p.Q58_E62del |
| MB0381 | MS | RO− | 10.7 | F | Multifocal bone | MAP2K1 | p.Q58_E62del |
| MB0218 | MS | RO− | 2.9 | F | Multifocal bone, skin | MAP2K1 | p.E102_I103del |
| A2582 | MS | RO+ | 4.0 | M | Mucosae (gingival), BM, spleen | BRAF | p.N486_P490del |
| A7517 | MS | RO+ | 49.0 | F | Multifocal bone (scapula and ribs), skin, BM, spleen | BRAF | p.N486_P490del |
| A2951 | MS | RO+ | 73.0 | M | Skin, gut, nodes, BM, spleen | BRAF | p.V600E |
| A7495 | MS | RO+ | 18.0 | M | Bone (vertebrae), lungs, BM, spleen | BRAF | p.V600E |
| MB1035 | MS | RO+ | 0.8 | M | Skin, bone (skull), BM, spleen | BRAF | p.V600E |
| MB0124 | MS | RO+ | 0.5 | F | Bone, liver, nodes, BM, spleen | MAP2K1 | p.Q56P |
| MB0134 | MS | RO+ | 0.5 | F | Skin, bone (temporal skull), liver, nodes, BM, spleen | MAP2K1 | p.Q56P |
| MB0688 | MS | RO+ | 0.8 | M | Nodes, BM, spleen | MAP2K1 | p.Q58_E62del |
| UPN . | Stage . | Risk . | Age, y at diagnosis . | Sex . | Site . | Gene . | Amino acid . |
|---|---|---|---|---|---|---|---|
| MB0375 | SS | — | 8.1 | M | Bone (femur) | BRAF | p.N486_P490del |
| MB0781 | SS | — | 3.2 | M | Bone (frontal) | BRAF | p.N486_P490del |
| A2570 | SS | — | 49.0 | M | Mucosae (oral and gingival) | BRAF | p.V600E |
| MB0347 | SS | — | 4.5 | F | Bone (pelvis) | MAP2K1 | p.E102_I103del |
| MB0064 | SS | — | 1.9 | M | Bone (orbit) | MAP2K1 | p.F53_Q58delinsL |
| MB0099 | SS | — | 3.0 | M | Bone (orbit) | MAP2K1 | p.F53_Q58delinsL |
| MB1072 | SS | — | 0.1 | M | Skin | MAP2K1 | p.K57T |
| MB0141 | SS | — | 0.9 | M | Bone (orbit) | MAP2K1 | p.Q58_E62del |
| MB0360 | SS | — | 4.5 | M | Bone (orbit) | MAP2K1 | p.Q58_E62del |
| A8035 | MS | RO− | 39.0 | M | Bone, DI | BRAF | p.V600E |
| MB0225 | MS | RO− | 16.4 | M | Lung, DI | BRAF | p.N486_P490del |
| MB0265 | MS | RO− | 3.5 | F | Skin, bone, lung | BRAF | p.N486_P490del |
| MB0276 | MS | RO− | 40.6 | M | Skin, DI | BRAF | p.N486_P490del |
| MB0352 | MS | RO− | 36.3 | M | Mulitfocal bone (mastoid, mandible, tibia, orbit), skin, kidney, nodes, DI | BRAF | p.V600E |
| MB0392 | MS | RO− | 4.7 | M | Bone, DI, ND-LCH | BRAF | p.V600E |
| MB0507 | MS | RO− | 0.5 | M | Multifocal bone (skull, tibia and pelvis), skin | BRAF | p.V600E |
| MB0165 | MS | RO− | 23.5 | M | Skin, bone, DI | ERBB3 | p.P921Q |
| MB0743 | MS | RO− | 1.4 | M | Multifocal bone (orbit, skull, mandible), skin, nodes | MAP2K1 | p.Q58_E62del |
| MB0381 | MS | RO− | 10.7 | F | Multifocal bone | MAP2K1 | p.Q58_E62del |
| MB0218 | MS | RO− | 2.9 | F | Multifocal bone, skin | MAP2K1 | p.E102_I103del |
| A2582 | MS | RO+ | 4.0 | M | Mucosae (gingival), BM, spleen | BRAF | p.N486_P490del |
| A7517 | MS | RO+ | 49.0 | F | Multifocal bone (scapula and ribs), skin, BM, spleen | BRAF | p.N486_P490del |
| A2951 | MS | RO+ | 73.0 | M | Skin, gut, nodes, BM, spleen | BRAF | p.V600E |
| A7495 | MS | RO+ | 18.0 | M | Bone (vertebrae), lungs, BM, spleen | BRAF | p.V600E |
| MB1035 | MS | RO+ | 0.8 | M | Skin, bone (skull), BM, spleen | BRAF | p.V600E |
| MB0124 | MS | RO+ | 0.5 | F | Bone, liver, nodes, BM, spleen | MAP2K1 | p.Q56P |
| MB0134 | MS | RO+ | 0.5 | F | Skin, bone (temporal skull), liver, nodes, BM, spleen | MAP2K1 | p.Q56P |
| MB0688 | MS | RO+ | 0.8 | M | Nodes, BM, spleen | MAP2K1 | p.Q58_E62del |
BM, bone marrow; DI, diabetes insipidus; ND-LCH, neurodegenerative LCH.