Table 2.
Patient number | Diagnosis | BRAF status | KIT status | MAP2K1 status | NRAS status | |||||
---|---|---|---|---|---|---|---|---|---|---|
Exon 9 | Exon 11 | Exon 13 | Exon 17 | Exon 18 | Exon 2 | Exon 3 | Exon 3 | |||
1 | LCH | wt | p.V473M | p.K558K | wt | wt | p.P832S | wt | wt | wt |
2 | LCH | wt | wt | wt | wt | wt | wt | wt | wt | wt |
3 | LCH | wt | wt | wt | p.A636A | wt | p.V833M | p.L37L, p.K64* | wt | wt |
4 | LCH | wt | p.Q459* | wt | wt | wt | wt | wt | wt | wt |
5 | LCH | wt | wt | p.P585L | p.H650Y | wt | wt | p.L37L | wt | wt |
6 | LCH | wt | wt | wt | wt | wt | p.S854S | wt | p.E102_I103del | wt |
7 | LCH | wt | wt | p.Y571Y | p.H650H | wt | wt | p.Q34*, p.R47*, p.V58V | wt | wt |
8 | ICH | wt | wt | p.V569I | wt | wt | wt | p.G79D, p.K157R | wt | wt |
ICH indeterminate cell histiocytosis, LCH Langerhans cell histiocytosis
Clinically relevant mutations are shown in italics; SNPs are in bold