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 | – | – | – | |||||