Table 3 MLPA, gene sequencing and BAP1 IHC in eleven primary orbital melanoma cases. The case number refers to the clinical histories previously published [7]. G gain, U unclassified, N normal copy normal, L loss; − reference sequence, + heterozygous mutation observed
Case ID | BAP1 IHC | MLPA result - chromosome | SF3B1 (R625H) | EIF1AX (N4S) | GNAQ (Q209L) | |||||
|---|---|---|---|---|---|---|---|---|---|---|
1p | 3 | 6p | 6q | 8p | 8q | |||||
1 | Positive | G | U | G | N | N | G | – | – | – |
2 | Positive | MLPA QC fail | – | – | – | |||||
4 | Negative | N | N | G | N | N | G | + | – | + |
5 | Positive | MLPA QC fail | – | – | + | |||||
6 | NA | N | N | N | N | N | N | – | – | – |
8 | Positive | N | U | G | N | N | N | – | – | – |
9 | Positive | G | N | G | L | L | G | + | – | – |
10 | Positive | N | N | G | N | N | G | – | + | – |
11 | Positive | U | U | U | G | G | N | + | – | – |
12 | Positive | MLPA QC fail | + | – | – | |||||
13 | Negative | MLPA QC fail | – | – | – | |||||