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. Author manuscript; available in PMC: 2018 Sep 1.
Published in final edited form as: J Invest Dermatol. 2017 May 10;137(9):2033–2035. doi: 10.1016/j.jid.2017.04.022

Table 1.

Clinicopathological and mutation information of primary leptomeningeal melanocytic tumors

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)