Clinical characteristics of LCH patients
A total of 114 pediatric LCH patients with available plasma samples were
enrolled in the present study. The patients’ clinical characteristics
are shown in Table 1. There were 70 boys and 44 girls in this study
cohort. The median age at diagnosis was 4.46 years (range, 0.08 to 15.08
years). These included patients were classified as follows: 68 (59.6%)
patients with SS LCH, 27 (23.7%) with MS RO- and 19 (16.7%) with MS
RO+ LCH. There was no significant difference in clinical features
between the 114 included patients and 25 excluded patients. The 114
studied LCH patients included 55 cases (48.2%) with BRAF -V600E
mutation, 31 cases (27.2%) with MAP2K1 mutation, 6 cases (5.3%)
with BRAF indel mutation, 6 cases (5.3%) with BRAF -V600D
mutation, 1 case (0.9%) with ARAF mutation, 1 case (0.9%) with
c.1517+2_1517+3ins BRAF mutation and 14 cases (12.3%) without
gene mutation.