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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

From: Involvement of mutant and wild-type CYSLTR2 in the development and progression of uveal nevi and melanoma

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
q 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