Characteristics of patients with ECD completing PRO surveys at enrollment
| Variable . | Category . | n . | % . | Median . | Mean . | SD . | Min . | Max . |
|---|---|---|---|---|---|---|---|---|
| Age at ECD diagnosis | y | 159 | 100 | 52.9 | 51.2 | 12.3 | 8.1 | 76.9 |
| Age at enrollment | y | 159 | 100 | 56.2 | 55.3 | 12.1 | 18.9 | 80 |
| Diagnosis | ECD | 139 | 87 | |||||
| Mixed ECD/LCH | 15 | 9 | ||||||
| Mixed ECD/RDD | 5 | 3 | ||||||
| Sex | Female | 65 | 41 | |||||
| Male | 94 | 59 | ||||||
| Length of undiagnosed ECD illness | y | 159 | 100 | 0.83 | 2.4 | 3.5 | 0 | 20.6 |
| Length of diagnosed ECD illness | y | 159 | 100 | 4.9 | 6.5 | 6 | 0.08 | 38.8 |
| Site of disease | Bone | 147 | 92 | |||||
| Neurologic | 108 | 68 | ||||||
| Brain/Parenchyma | 83 | 52 | ||||||
| Cardiovascular | 73 | 46 | ||||||
| Pulmonary | 28 | 18 | ||||||
| Retroperitoneum | 80 | 50 | ||||||
| Abdomen | 28 | 18 | ||||||
| Skin | 40 | 25 | ||||||
| Lymph node | 13 | 8 | ||||||
| Other | 22 | 14 | ||||||
| Hypertension | No | 83 | 52 | |||||
| Yes | 75 | 47 | ||||||
| Unknown | 1 | 1 | ||||||
| Diabetes | No | 134 | 84 | |||||
| Yes | 24 | 15 | ||||||
| Unknown | 1 | 1 | ||||||
| Mutational status | BRAFV600E mutant | 90 | 57 | |||||
| With JAK2 | 1 | 1 | ||||||
| With RAS | 1 | 1 | ||||||
| BRAFV600E wild type | 39 | 25 | ||||||
| CSF1R | 1 | 1 | ||||||
| JAK2 | 1 | 1 | ||||||
| ARAF | 2 | 1 | ||||||
| MAP2K1 | 10 | 6 | ||||||
| RAS/RAF | 5 | 4 | ||||||
| Non-V600E BRAF | 3 | 3 | ||||||
| Not sequenced | 6 | 4 | ||||||
| Treatment at enrollment | None | 52 | 33 | |||||
| Conventional | 15 | 9 | ||||||
| Targeted | 92 | 58 | ||||||
| Treatment at 12 months | None | 28 | 24 | |||||
| Conventional | 9 | 8 | ||||||
| Targeted | 78 | 49 | ||||||
| Other∗ | 3 | 2 | ||||||
| Unknown | 41 | 25 |
| Variable . | Category . | n . | % . | Median . | Mean . | SD . | Min . | Max . |
|---|---|---|---|---|---|---|---|---|
| Age at ECD diagnosis | y | 159 | 100 | 52.9 | 51.2 | 12.3 | 8.1 | 76.9 |
| Age at enrollment | y | 159 | 100 | 56.2 | 55.3 | 12.1 | 18.9 | 80 |
| Diagnosis | ECD | 139 | 87 | |||||
| Mixed ECD/LCH | 15 | 9 | ||||||
| Mixed ECD/RDD | 5 | 3 | ||||||
| Sex | Female | 65 | 41 | |||||
| Male | 94 | 59 | ||||||
| Length of undiagnosed ECD illness | y | 159 | 100 | 0.83 | 2.4 | 3.5 | 0 | 20.6 |
| Length of diagnosed ECD illness | y | 159 | 100 | 4.9 | 6.5 | 6 | 0.08 | 38.8 |
| Site of disease | Bone | 147 | 92 | |||||
| Neurologic | 108 | 68 | ||||||
| Brain/Parenchyma | 83 | 52 | ||||||
| Cardiovascular | 73 | 46 | ||||||
| Pulmonary | 28 | 18 | ||||||
| Retroperitoneum | 80 | 50 | ||||||
| Abdomen | 28 | 18 | ||||||
| Skin | 40 | 25 | ||||||
| Lymph node | 13 | 8 | ||||||
| Other | 22 | 14 | ||||||
| Hypertension | No | 83 | 52 | |||||
| Yes | 75 | 47 | ||||||
| Unknown | 1 | 1 | ||||||
| Diabetes | No | 134 | 84 | |||||
| Yes | 24 | 15 | ||||||
| Unknown | 1 | 1 | ||||||
| Mutational status | BRAFV600E mutant | 90 | 57 | |||||
| With JAK2 | 1 | 1 | ||||||
| With RAS | 1 | 1 | ||||||
| BRAFV600E wild type | 39 | 25 | ||||||
| CSF1R | 1 | 1 | ||||||
| JAK2 | 1 | 1 | ||||||
| ARAF | 2 | 1 | ||||||
| MAP2K1 | 10 | 6 | ||||||
| RAS/RAF | 5 | 4 | ||||||
| Non-V600E BRAF | 3 | 3 | ||||||
| Not sequenced | 6 | 4 | ||||||
| Treatment at enrollment | None | 52 | 33 | |||||
| Conventional | 15 | 9 | ||||||
| Targeted | 92 | 58 | ||||||
| Treatment at 12 months | None | 28 | 24 | |||||
| Conventional | 9 | 8 | ||||||
| Targeted | 78 | 49 | ||||||
| Other∗ | 3 | 2 | ||||||
| Unknown | 41 | 25 |
LCH, Langerhans cell histiocytosis; Max, maximum; Min, minimum; RDD, Rosai-Dorfman disease.
Other regimens included pembrolizumab, imatinib/anakinra, and pexidartinib.