Table 1.
Demographic and clinical characteristics for all patients (N = 50)
| Characteristic | Median/N | Range/% | |
|---|---|---|---|
| Age | Median | Range | Comment |
| 51.5 | 18–70 | ||
| N | % | ||
| Sex | |||
| Male | 30 | 60% | |
| Female | 20 | 40% | |
| Race | |||
| Caucasian | 41 | 82% | |
| African American | 1 | 2% | |
| Asian | 4 | 8% | |
| Not reported | 4 | 8% | |
| Hispanic Ethnicity | |||
| Yes | 4 | 8% | |
| No | 45 | 90% | |
| Not reported | 1 | 2% | |
| ECD diagnosis | |||
| ECD only | 39 | 78% | |
| Mixed ECD/Langerhans cell histiocytosis | 6 | 12% | |
| Mixed ECD/Rosai-Dorfman disease | 5 | 10% | |
| ECD symptoms | |||
| Constitutional | 30 | 60% | |
| Musculoskeletal pain | 24 | 48% | |
| Visual or ocular | 13 | 26% | |
| Gastrointestinal | 12 | 24% | |
| Skin or subcutaneous | 15 | 30% | |
| Cardiac | 10 | 20% | |
| Respiratory | 8 | 16% | |
| Renal or urologic | 14 | 28% | |
| Neurologic or neuro-endocrine | 30 | 60% | |
| Psychiatric | 15 | 30% | |
| Endocrine | 29 | 58% | |
| ECOG status | |||
| 0 | 24 | 48% | |
| 1 | 13 | 26% | |
| 2 | 6 | 12% | |
| Unknown | 7 | 14% | |
| ECD mutation | |||
| BRAFV600E | 27 | 54% | |
| BRAF non-V00E | 3 | 6% | BRAF-PICALM fusion, ANP32A-BRAF fusion, BRAF p.N486_P490indel) |
| KRAS | 3 | 6% | KRASG12S, KRASL19F, KRASR149G |
| MAP2K1 | 6 | 12% | MAP2K1 p.P105_I107indel, MAP2K1C121S, MAP2K1P124Q, MAP2K1p.I103-A106del, MAP2K1G128D, MAP2K1F53L |
| MAP2K2 | 1 | 2% | MAP2K2Y143H |
| ARAF | 2 | 4% | ARAFS214A, ARAFS214F |
| RAF1 | 1 | 2% | |
| ALK | 1 | 2% | KIF5B-ALK fusion |
| Multiple mutations | 1 | 2% | KRASG12R, ARAFP216A |
| No mutation identified | 5 | 10% | |