Table 1.
Clinical data and sequencing results for LCH cases without BRAF-V600E or MAP2K1 mutations
| Case | Dx | Age (y) | Disease burden | Progression or recurrence | WES | BRAF-seq | RNA- seq | BRAF alteration |
|---|---|---|---|---|---|---|---|---|
| LCH-01 | LCH | 1.7 | LR, multisystem, multiple lesions | Yes | No | Yes | No | Indel |
| LCH-02 | LCH | 3.5 | LR, multisystem, multiple lesions | Yes | Yes | No | Yes | Indel |
| LCH-03 | LCH | 16.4 | LR, multisystem, multiple lesions | Yes | Yes | Yes | Yes | Indel |
| LCH-04 | LCH | 40.6 | LR, multi-system, multiple lesions | Yes | No | Yes | No | Indel |
| LCH-05 | LCH | 8.1 | LR, single-system, single lesion | No | Yes | Yes | Yes | Indel |
| LCH-06 | LCH | 3.2 | LR, single-system, single lesion | No | No | Yes | Yes | Indel |
| LCH-07 | LCH | 14.9 | LR, single-system, single lesion | No | No | Yes | Yes | Fusion |
| LCH-08 | LCH | 1.2 | LR, single-system, multiple lesions | Yes | Yes | No | No | WT |
| LCH-09 | LCH/JXG | 6.7 | LR, single-system, multiple lesions | Yes | Yes | No | No | WT |
| LCH-10 | LCH | 0.7 | HR, multi-system, multiple lesions | Yes | Yes | No | No | WT |
| LCH-11 | LCH | 1.0 | HR, multi-system, multiple lesions | Yes | No | Yes | No | WT |
| LCH-12 | LCH | 5.8 | LR, multi-system, multiple lesions | Yes | No | Yes | No | WT |
| LCH-13 | LCH | 70.1 | HR, multi-system, multiple lesions | Yes | No | Yes | No | WT |
| LCH-14 | LCH | 30.5 | HR, multi-system, multiple lesions | Yes | No | Yes | No | WT |
| LCH-15 | LCH | 3.8 | LR, single-system, single lesion | No | No | Yes | No | WT |
| LCH-16 | LCH | 16.3 | LR, multi-system, multiple lesions | Yes | No | Yes | No | WT |
| LCH-17 | LCH | 8.6 | LR, single-system, single lesion | No | No | Yes | No | WT |
| LCH-18 | LCH | 2.1 | LR, single-system, multiple lesions | Yes | No | Yes | No | WT |
| LCH-19 | LCH | 29.9 | LR, multi-system, multiple lesions | No | No | Yes | No | WT |
| LCH-20 | LCH | 17.2 | LR, multi-system, multiple lesions | Yes | No | Yes | No | WT |
| LCH-21 | LCH | 0.1 | LR, single-system, multiple lesions | Yes | No | Yes | No | WT |
| LCH-22 | LCH | 0.1 | LR, single-system, single lesion | No | No | Yes | No | WT |
| LCH-23 | LCH | 1.9 | LR, multi-system, multiple lesions | No | No | Yes | No | WT |
| LCH-24 | LCH | 11.6 | HR, multi-system, multiple lesions | Yes | No | No | Yes | WT |
WES, BRAF-seq, and RNA-seq status refer to whether whole-exome sequencing (WES), targeted BRAF sequencing (BRAF-seq), and/or transcriptome sequencing (RNA-seq) were performed for that case. The shaded rows detail the information for patients with LCH in which alternative genetic alterations in BRAF were identified.
HR, high-risk; indel, in-frame deletion; JXG, juvenile xanthogranuloma; LCH, Langerhans cell histiocytosis; LR, low-risk; WT, wild-type.