Table 1 Clinical and molecular characteristics of CYSLTR2 mutant primary uveal melanomas (PUM-1, PUM-2, V4-A9ED, VD-AA8O and YZ-A982) analysed in this study
Case | PUM-1 | PUM-2 | TCGA | TCGA | TCGA |
|---|---|---|---|---|---|
V4-A9ED | VD-AA8O | YZ-A982 | |||
Institute | Leiden University Medical Center | Leiden University Medical Center | Institut Curie France | University of Liverpool | Ohio State University |
Age at diagnosis | 86 | 8 | 45 | 77 | 79 |
Gender | female | male | male | male | female |
Tumour location | choroid/ ciliary body | iris/ ciliary body | choroid/ ciliary body | choroid/ ciliary body | choroid/ ciliary body |
Tumour basal diameter in mm (clinical) | 18.63 | 8 | 17 | 17.3 | 23.64 |
Tumour thickness in mm (clinical) | 14.16 | 4 | 11 | 11.9 | 15.51 |
Tumour basal diameter in mm (pathological) | 17 | ring melanoma | 16 | 13.5 | 25 |
Tumour thickness in mm (pathological) | 11 | 4 | not available | not available | not available |
Extrascleral extension | 4.5 mm | absent | absent | absent | absent |
Tumour treatment | enucleation | enucleation | enucleation | enucleation | enucleation |
Vital status | dead | alive | alive | dead | dead |
Time from diagnosis to follow-up in days | 564 | 2850 | 1078 | 606 | 841 |
Cause of death | not available | not applicable | not applicable | metastatic | atrial fibrillation complications |
uveal melanoma | |||||
Distant metastasis | not available | no | no | yes | no |
Locoregional Recurrence | not available | no | no | no | no |
AJCC primary tumour (T) | pT3d | pT3 | T3b | T3a | T4b |
Cell type | mixed | mixed | spindle | epithelioid | spindle |
Gαq signalling mutation | CYSLTR2 p.L129Q | CYSLTR2 p.L129Q | CYSLTR2 p.L129Q | CYSLTR2 p.L129Q | CYSLTR2 p.L129Q |
BAP1 status | aberrant (loss of nuclear staining) | normal (nuclear staining) | aberrant (mutation) | aberrant (homozygous loss) | normal (no mutation) |
Chromosome 3p status | loh | normal | loh | loh | gain |
Chromosome 8q status | gain | normal | normal | gain | gain |