Phospho-extracellular signal-regulated kinase (pERK) and BRAF/NRAS/MAP2K1 mutation status in the 26 analysed pulmonary Langerhans cell histiocytosis lesions
Patient | CD1a cells | pERK status# | BRAF V600 status | MAP2K1 status | NRAS Q61 status | |||
Genotype¶ | Mutant allele frequency | VE1 | Genotype | Genotype¶ | Mutant allele frequency | |||
1 | 30 | + | V600E | 36.7 | + | WT | WT | 0 |
2 | 40 | 2+ | V600E | 20.7 | + | WT | WT | 0 |
3 | 20 | + | V600E | 7.4 | + | WT | Q61K | 4.0 |
4 | 80 | +++ | V600E | 8.9 | + | WT | Q61K | 5.2 |
5 | 80 | –/+ | V600E | 29.6 | + | WT | WT | 0 |
6 | 50 | –/+ | V600E | 16.1 | + | WT | WT | 0 |
7 | 20 | ++ | V600E | 9.2 | + | WT | Q61R | 39.1 |
8 | 50 | + | V600E | 7.6 | – | WT | WT | 0 |
9 | 20 | + | V600E | 19.4 | + | WT | Q61K | 2.0 |
10 | 10 | –/+ | V600E | 12.0 | + | WT | Q61R | 1.0 |
11 | 40 | + | V600E | 16.3 | – | WT | WT | 0 |
12 | 30 | + | V600E | 27.9 | + | WT | Q61R | 1.0 |
13 | 50 | ++ | V600E | 10.5 | + | WT | Q61K | 8.3 |
14 | 10 | + | WT | 0 | – | C121S | WT | 0 |
15 | 50 | + | WT | 0 | – | WT | WT | 0 |
16 | 30 | +/++ | WT | 0 | – | WT | WT | 0 |
17 | 50 | ++ | WT | 0 | – | WT | WT | 0 |
18 | 30 | + | WT | 0 | – | WT | Q61K | 4.0 |
19 | 40 | + | WT | 0 | – | C121S | WT | 0 |
20 | 10 | NA | WT | 0 | NA | WT | WT | 0 |
21 | 20 | –/+ | WT | 0 | + | WT | WT | 0 |
22 | 10 | NA | WT | 0 | – | WT | Q61K | 1.0 |
23 | 10 | NA | WT | 0 | NA | WT | Q61K | 7.9 |
24 | 30 | + | WT | 0 | – | C121S | WT | 0 |
25 | 10 | ++ | WT | 0 | – | WT | Q61K | 3.0 |
26 | 30 | + | WT | 0 | – | WT | WT | 0 |
Data are presented as %, unless otherwise stated. WT: wild-type; NA: not available. #: two BRAFV600E-mutated melanomas (both positive for VE1 immunostaining) were used as positive controls (these samples were scored ++ and +++, respectively, for pERK immunostaining); ¶: BRAF and NRAS genotyping was performed by both pyrosequencing and E-ice-COLD-PCR (enhanced improved and complete enrichment coamplification at lower denaturation temperature PCR).