TABLE 6.
Gene mutations in patients with Langerhans cell histiocytosis.
| No. | Sex | Age | BRAF V600E | WES | Refractory /relapsed disease | Disease classification (overall) | Organ involvement (overall) | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Tissue | Plasma cfDNA | ||||||||||
| IHC | PCR | PCR | Organ | PG/CNS | RO | ||||||
| 1 | F | 61 | + | + | + | BCR::JAK2 | PD (Dead) | MS‐LCH | B, L, PG, LN, LV, ST, DO, CV | + | + |
| 2 | F | 55 | + | + | + | BRAF p.V600E | R5 | MS‐LCH | B, PG, S, DO | + | − |
| 3 | M | 36 | + | + | + | BRAF p.V600E | R2 | MS‐LCH | B, PG, LN, CNS | + | − |
| 4 | M | 25 | + | + | N/A | N/A | R1 | MS‐LCH | L, PG, CNS, ST | + | − |
| 5 | M | 59 | + | + | − | None | − | MS‐LCH | B, L | − | − |
| 6 | M | 24 | + | − | − | None | R1 | SSm‐LCH | S | − | − |
| 7 | F | 47 | + | − | − | KRAS p.V14I | R3 | MS‐LCH | B, PG | + | − |
| 8 | F | 66 | + | N/A | N/A | N/A | − | SSm‐LCH | PG, CNS | + | − |
| 9 | F | 54 | + | − | N/A | None | − | MS‐LCH | B, PG, CNS, DO | + | − |
| 10 | F | 45 | − | + | N/A | BRAF p.V600E MAP2K1 p.F53L | − | MS‐LCH | B, LN | − | − |
| 11 | F | 30 | − | + | N/A | None | − | SSm‐LCH | B | − | − |
| 12 | F | 45 | − | N/A | + | N/A | PD (Dead) | SSm‐LCH | PG, CNS | + | − |
| 13 | M | 29 | − | N/A | + | N/A | − | MS‐LCH | L, LV, CNS, DO, T | + | + |
| 14 | F | 40 | NT | NT | + | NT | R1 | SSm‐LCH | B, PG, CNS | + | − |
| 15 | F | 44 | − | − | − | N/A | − | MS‐LCH | PG, S | + | − |
| 16 | M | 47 | − | − | − | NT | R1 | MS‐LCH | B, L, PG | + | − |
| 17 | M | 57 | − | − | − | None | R2 | MS‐LCH | B, PG, ST, TG, DO | + | − |
| 18 | F | 42 | − | − | − | None | − | MS‐LCH | B, L, S | − | − |
| 19 | M | 42 | − | − | − | None | − | MS‐LCH | PG, LN, TG | + | − |
| 20 | M | 62 | − | − | − | None | − | SSm‐LCH | S | − | − |
| 21 | F | 36 | − | − | − | None | SD | SSm‐LCH | PG, CNS | + | − |
| 22 | F | 43 | − | − | − | None | − | MS‐LCH | PG, S, CNS | + | − |
| 23 | M | 53 | − | − | − | None | − | MS‐LCH | B, PG, ST | + | − |
| 24 | F | 66 | − | − | N/A | NRAS p.G12D NRAS p.G13D | R2 | SSm‐LCH | S | − | − |
| 25 | F | 29 | − | − | N/A | None | − | MS‐LCH | S, LN | − | − |
| 26 | F | 41 | − | − | N/A | N/A | − | SSm‐LCH | S | − | − |
| 27 | M | 29 | − | − | N/A | NT | − | SSm‐LCH | B | − | − |
| 28 | M | 27 | − | NT | − | None | R1 | MS‐LCH | B, S, CNS | + | − |
| 29 | F | 40 | − | NT | − | NT | R2 | MS‐LCH | B, LN, S | − | − |
| 30 | M | 25 | − | N/A | − | N/A | R1 | SSm‐LCH | B | − | − |
| 31 | M | 50 | − | N/A | N/A | N/A | − | SSs‐LCH | B | − | − |
| 32 | M | 35 | − | N/A | N/A | N/A | − | MS‐LCH | LN, LV | − | + |
| 33 | M | 25 | − | N/A | N/A | N/A | − | SSs‐LCH | B | − | − |
| 34 | F | 60 | − | N/A | N/A | N/A | − | MS‐LCH | B, PG, CNS, ST, TG | + | − |
| 35 | M | 78 | NT | − | N/A | None | R1 | SSm‐LCH | S | − | − |
| 36 | M | 30 | N/A | N/A | − | N/A | R1 | MS‐LCH | B, LN | − | − |
| 37 | M | 29 | N/A | N/A | − | N/A | − | MS‐LCH | B, L, LV, ST, TG, T | − | + |
Abbreviations: B, bone; cfDNA, cell‐free DNA; CNS, central nervous system; CV, cardiovascular; DO, digestive organs excluding the liver; IHC, immunohistochemistry; L, lung; LN, lymph nodes; LV, liver; MS‐LCH: multisystem LCH; N/A, not available; None, none of the mutant alleles measured by WES; NT, not tested (because of insufficient sample for analysis); PCR, polymerase chain reaction; PD, progression disease; PG, pituitary gland; PG/CNS, pituitary gland and CNS involvement; R No., relapse numbers; RO, risk organ involvement; S, skin; SSm‐LCH, single system with multi‐site LCH; SSs‐LCH, single system with single‐site LCH; ST, soft tissue; T, thymus; TG, thyroid gland; WES, whole‐exome sequencing.