Table 1.
Nr. | Age | Sex | Location | Diag. | Sample | GNAQ | GNA11 | PLCB4 | CYSLTR2 | EIF1AX | SF3B1 | BAP1 | Status | FU |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 46 | f | cavernous sinus | M | P | - | - | - | - | - | - | - | NK | NK |
2 | 48 | f | spinal | M | P | Q209L° | - | - | - | - | - | - | NK | NK |
3 | 41 | f | frontal | M | P | Q209P° | - | - | - | - | - | - | NK | NK |
4 | 73 | m | spinal C2-3 | M | P | Q209L | - | - | - | - | - | - | NK | NK |
5 | 73 | f | temporal right | M | P | - | - | D630Y | - | - | - | E31del | NK | NK |
6 | 77 | f | spinal T7-8 | M | P | - | - | - | L129Q | R13C | - | - | NK | NK |
7 | 34 | m | spinal T10-12 | IGM | P | Q209P | - | - | - | - | - | - | A | 7y |
8 | 44 | m | spinal C1 | IGM | P | Q209L° | - | - | - | - | - | - | A | 5y |
9 | 79 | m | spinal T4-5 | IGM | R | Q209L° | - | - | - | - | - | - | NK | NK |
10 | 35 | f | spinal C5-6 | IGM | P | Q209P° | - | - | - | - | - | - | A | 8y |
11 | 65 | m | spinal C3 | IGM | P | Q209L° | - | - | - | G8V | - | - | A | 3y |
12 | 69 | f | spinal T8 | IGM | P | Q209L° | - | - | - | G9D | - | - | NK | NK |
13 | 64 | m | spinal C5 | IGM | P | Q209L° | - | - | - | - | - | - | NK | NK |
14 | NK | NK | NK | IGM | P | Q209L | - | - | - | - | - | - | NK | NK |
15 | 20 | m | frontal | IGM | P | Q209P° | - | - | - | - | - | - | A, R# | 5y |
16 | 67 | m | spinal T9-10 | IGM | P | - | - | - | L129Q | - | - | - | NK | NK |
17 | 48 | f | spinal T8-9 | IGM | R | - | Q209L° | - | - | R13P | - | - | A | 6y |
18 | 78 | f | tentorium | IGM | P | - | Q209L° | - | - | - | - | R60*° | R§ | 1y |
19 | 66 | m | brain | Mel | P | R183Q° | - | - | - | G15D | R625H° | - | D | 1y |
green = activating mutations; blue = mutations expected to alter protein function; red = loss of function mutation; grey = mutation of unclear functional significances; Nr. = number; Diag. = diagnosis; m = male; f = female; NK = not known; P = primary; R = recurrence; M = melanocytoma; IGM = intermediate grade melanocytoma; Mel = melanoma; del. = deletion; FU = follow-up period; NK = not known; A = alive; R# = recurred after 3 years (mutation profile was identical to the primary); R§ = recurred, then lost to follow-up; D = dead (disease related)
signifies mutations previously published (van de Nes et al., 2016a, van de Nes et al., 2016b)