TABLE 1.
MATERIAL | ||||||||||
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CHARACTERISTIC | PRIMARY TUMOR 92-1 (IIA) | CELL LINE 92-1 | PRIMARY TUMOR E-143-90 (MEL202) | CELL LINE MEL202 | PRIMARY TUMORE-1268-94 (MEL270) | CELL LINE MEL270 | PRIMARY TUMOR E-994-95 (MEL285) | CELL LINE MEL285 | PRIMARY TUMOR E-131-96 (MEL290) | CELL LINE MEL290 |
Exenteration | I-125 | I-125 | nevus of Ota | |||||||
choroidal, very pigmented | choroidal, large, into optic nerve; nevoid area | ciliochoroidal, mushroom | choroidal, dome, many vessels | |||||||
GNA11ex4, ex5 | WTL,R | WT26,28,R | WT28 | WTL,R | WT28,R | Q209 LR,L | WT26,R | WTL | WT26,R | |
GNAQ ex4, ex5 | Q209L 626 A>T | Q209L 626 A>T26,R | Q209L 626 A>T R210K26 629 G>A28 | Q209PL,R | Q209P 626 A>C28,R | WTL,R | WT26,R | WTL | WT26,R | |
BAP1 mutation | WTR | WTR | WTR | WTR | ||||||
BAP1 protein | yes28 | yes28 | Yes (OMM2.5 yes)28 | yes, low† | yes, low† | |||||
BAP1 IHC | positive | positiveR | negative | positive R | negative | positiveR | positive | negative R | ||
Chromosome 3 | disomy 31 | disomy 31,42 | disomy 327,46,L
51 chrom |
monosomy 3 (50%)R,L | disomy 3L loss 3p24, loss 3q21.2–3q2445 | monosomy 3L | disomy 327 loss 3p26-pter42 | monosomy 3 (80%)R,L | disomy 3R,L loss 3p26-pter42,44 | |
Chromosome 6 | tetrasomy 6pL | gain 6p42,L | gain 6p loss 6q |
gain 6pL | tetrasomy 6p42 | disomy 6pL | 6q loss42 | disomy 3pL | disomy 642 | |
Chromosome 8 | tetrasomy 8R,L | gain 8q42,L | gain 8q (6 copies)L | disomy 8R,L | disomy 8qL extra 842 | disomy 8qL | disomy 8pR tetrasomy 8qR,L | disomy 8R,L | disomy 8R,L /8q24.1-24.2 gain42 | |
EIF1AX | c.17G/A28,R | WT28 | WTR | WTR | WTR | |||||
SF3B1 exon 12–16 | WT28,R | C1793c>T28 | WTR | WTR | WTR | |||||
Cell type | 90% epithelioid | mixed, many vessels | mixed, 20% epithelioid | 95% epithelioid, many vessels | ||||||
HMB45 (gp100) | positive | positive40,43 | positive40,43 | 99% 3+ nevus 50% | positive41 | 99% 3+ | absent43 | 99% 3+ | absent43 | |
Melan-A | positive26,43 | 80% 1+ nevus 0% | positive26,28 | 80% 2–3+ | absent43 | 95% 3+ | absent43 | |||
CD68 | 3+ | 3+ | 3+ | |||||||
CD3 | 1–2+ | 1+ | 1+ | 2+ | ||||||
Pigment macrophages | many | many | sporadic | many |
Data regarding the primary choroidal melanoma and the choroidal melanoma cell lines were collected from published papers. A cell is empty when information is not available. The presence of mutations in exons 4 and 5 of GNAQ and GNA11 was studied in the primary choroidal melanomas and in the choroidal melanoma cell lines (R = Rotterdam, L = Leiden). Mutations in E-1268-94 and E-994-95 were also determined in Liverpool with the same results. Mutations in exons 1 and 2 of EIF1AX and exons 12–16 of SF3B1 were determined in 92-1, Mel270, Mel285, and Mel290 (Rotterdam). The chromosome composition of the primary tumors and the choroidal melanoma cell lines was obtained from the literature or obtained by FISH analysis or Droplet PCR (primary tumors) or SNP analysis (cell lines). Immunohistochemical analyses were performed for expression of BAP1, HMB45, Melan-A, and the presence of macrophages (CD8) and T cells (CD3) on sections of the primary uveal melanoma.
As determined by Dr. A. G. Jochemsen, LUMC, Leiden, The Netherlands.