Table 1. List of identified mutations.
| Pat. | Sample | Diagnosis | Type | BRAF | NRAS | GNAQ | GNA11 | BAP1 | Other |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 1 MT-CNS | Melanocytoma | P | WT | WT | WT | WT | WT | |
| 2 | 2 MT-CNS | Melanocytoma | P | WT | WT | Q209L | WT | WT | |
| 3 | 3 MT-CNS+ | Melanocytoma | P | WT | WT | Q209P | WT | WT | |
| 4 | 4 MT-CNS+ | Melanocytoma | P | WT | WT | Q209L | WT | WT | |
| 5 | 5 MT-CNS | Melanocytoma | P | WT | WT | WT | WT | WT | TP53 H214 fs, ARID1A S614A |
| 6 | 6 MT-CNS+ | IG Melanocytoma | P | WT | WT | Q209L | WT | WT | SMARCA4 P197S |
| 7 | 7 MT-CNS+ | IG Melanocytoma | P | WT | WT | Q209L | WT | WT | |
| 8 | 8 MT-CNS | IG Melanocytoma | P | WT | WT | Q209P | WT | WT | WT1 A343S |
| 9 | 9 MT-CNS | IG Melanocytoma | P | WT | WT | Q209L | WT | WT | |
| 10 | 10 MT-CNS | IG Melanocytoma | P | WT | WT | Q209L | WT | WT | GNAQ V206I |
| 11 | 11 MT-CNS | IG Melanocytoma | P | WT | WT | Q209L | WT | WT | |
| 12 | 12 MT-CNS | IG Melanocytoma | P | WT | WT | Q209L | WT | WT | |
| 13 | 13 MT-CNS | IG Melanocytoma | P | WT | WT | WT | WT | WT | SMARCA4 R167Q |
| 14 | 14 MT-CNS | IG Melanocytoma | P | WT | WT | Q209L | WT | WT | |
| 15 | 15 MT-CNS+ | IG Melanocytoma | P | WT | WT | Q209P | WT | WT | |
| 15 | 16 MT-CNS+ | IG Melanocytoma | R | WT | WT | Q209P | WT | WT | |
| 16 | 17 MT-CNS+ | IG Melanocytoma | P | WT | WT | WT | Q209L | R60* | |
| 16 | 18 MT-CNS+ | IG Melanocytoma | R | WT | WT | WT | Q209L | R60* | |
| 17 | 19 MT-CNS | IG Melanocytoma | R | WT | WT | WT | Q209L | WT | |
| 1 | 1 UM | Uveal melanoma | M | WT | WT | WT | Q209L | WT | TERT G804S |
| 2 | 2 UM | Uveal melanoma | M | WT | WT | WT | WT | R385* | FBXW7 R505C, TP53 R248Q, R273C |
| 3 | 3 UM | Uveal melanoma | M | WT | WT | WT | Q209L | G115 fs | |
| 4 | 4 UM | Uveal melanoma | M | WT | WT | Q209P | WT | WT | |
| 5 | 5 UM | Uveal melanoma | M | WT | WT | Q209P | WT | WT | |
| 6 | 6 UM | Uveal melanoma | M | WT | WT | WT | Q209L | I210 fs | BAP1 A648del# |
| 7 | 7 UM | Uveal melanoma | M | WT | WT | WT | Q209L | L97P | |
| 1 | 1 CM | Cut. melanoma | P | V600E | WT | WT | WT | WT | PTEN A328 fs*15, ARID1A R1721*# |
| 2 | 2 CM | Cut. melanoma | P | V600K | WT | WT | WT | WT | |
| 3 | 3 CM | Cut. melanoma | P | WT | Q61K | WT | WT | WT | RAC1 P29S, CTNNB1 S33F, PIK3CA P377L |
| 4 | 4 CM | Cut. melanoma | M | WT | Q61K | WT | WT | WT | RAC1 P29S, ARID1A Q588*, WT1 R366C# |
| 5 | 5 CM | Cut. melanoma | M | V600E | WT | WT | WT | WT | CTNNB1 S45P |
| 6 | 6 CM | Cut. melanoma | M | T599_V600insT | WT | WT | WT | WT | ARID1A G423Q, ARID2 S297F |
| 7 | 7 CM | Cut. melanoma | P | V600K | WT | WT | WT | WT | MAP2K1 P124L |
| 8 | 8 CM | Cut. melanoma | P | N581S | WT | WT | WT | WT | NF1 T923 fs, ARID1A R1202Q, KIT F469L |
| 9 | 9 CM | Cut. melanoma | P | P239L | WT | WT | WT | WT | TP53 G245C, ARID1A S574F, SF3B1 P355S |
| 10 | 10 CM | Cut. melanoma | CL | WT | Q61K | WT | WT | WT | KIT V569A, NF1 R440* |
| 11 | 11 CM | Cut. melanoma | CL | V600E | WT | WT | WT | WT | MITF L117F |
| 12 | 12 CM | Cut. melanoma | M | V600E | WT | WT | WT | WT | IDH1 V178I |
| 13 | 13 CM | Cut. melanoma | P | V600E | WT | WT | WT | WT | WT1 G334R |
| 14 | 14 CM | Cut. melanoma | M | V600E | WT | WT | WT | WT | |
| 15 | 15 CM | Cut. melanoma | P | WT | WT | WT | WT | WT | PIK3CA G109del, NF1 H553 fs |
| 16 | 16 CM | Cut. melanoma | P | WT | Q61R | WT | WT | WT | NF1 L2416P |
| 17 | 17 CM | Cut. melanoma | M | WT | WT | WT | WT | WT | KIT K642E, SF3B1 R625H |
| 18 | 18 CM | Cut. melanoma | P | V600E | WT | WT | WT | WT | |
| 19 | 19 CM | Cut. melanoma | P | WT | Q61K | WT | WT | WT | ARID1A R1906Q |
Italics—mutations known or assumed to be activating; bold—loss of function mutations; normal—missense mutation (frequently with unknown functional consequences); Pat patient; MT-CNS melanocytic tumor of the central nervous system; UM uveal melanoma; CM cutaneous melanoma; IG intermediate grade; Cut. cutaneous; fs frame shift;
*
stop codon (nonsense mutation); ins insertion; del deletion; P primary tumor; R recurrence; CL cell line
All mutations listed in the table were found to have an allelic frequency of at least 15 %
#
More detailed information and additional mutations are presented in Supplemental Table 3
+
Samples were previously analyzed for GNAQ and GNA11 mutations by pyrosequencing [15]